Canonical Allele Identifier: CA10404860
Community Standard Title: NM_006044.4(HDAC6):c.513C>T (p.Tyr171=)
Gene: HDAC6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48806443C>T , CM000685.2:g.48806443C>T GRCh38
NC_000023.10:g.48664850C>T , CM000685.1:g.48664850C>T GRCh37
NC_000023.9:g.48549794C>T NCBI36
NG_012560.1:g.9364C>T

Transcript Alleles

HGVS Amino-acid Change
NM_006044.4:c.513C>T MANE Select NP_006035.2:p.Tyr171=
ENST00000334136.11:c.513C>T MANE Select ENSP00000334061.5:p.Tyr171=
NM_001321225.1:c.555C>T NP_001308154.1:p.Tyr185=
NM_001321225.2:c.555C>T NP_001308154.1:p.Tyr185=
NM_001321226.1:c.513C>T NP_001308155.1:p.Tyr171=
NM_001321226.2:c.513C>T NP_001308155.1:p.Tyr171=
NM_001321227.1:c.513C>T NP_001308156.1:p.Tyr171=
NM_001321227.2:c.513C>T NP_001308156.1:p.Tyr171=
NM_001321228.1:c.513C>T NP_001308157.1:p.Tyr171=
NM_001321228.2:c.513C>T NP_001308157.1:p.Tyr171=
NM_001321229.1:c.513C>T NP_001308158.1:p.Tyr171=
NM_001321230.1:c.*768C>T NP_001308159.1:n.*768C>T
NM_001321230.2:c.*768C>T NP_001308159.1:n.*768C>T
NM_001321231.2:c.*768C>T NP_001308160.1:n.*768C>T
NM_006044.2:c.513C>T NP_006035.2:p.Tyr171=
NM_006044.3:c.513C>T NP_006035.2:p.Tyr171=
NR_135591.1:n.543C>T
NR_135592.1:n.677C>T
NR_135592.2:n.626C>T
NR_135593.2:n.1322C>T
ENST00000334136.9:c.513C>T ENSP00000334061.5:p.Tyr171=
ENST00000376610.6:c.513C>T ENSP00000365795.2:p.Tyr171=
ENST00000376610.7:c.513C>T ENSP00000365795.3:p.Tyr171=
ENST00000376619.6:c.513C>T ENSP00000365804.2:p.Tyr171=
ENST00000376619.7:c.513C>T ENSP00000365804.2:p.Tyr171=
ENST00000376643.6:c.513C>T ENSP00000365831.2:p.Tyr171=
ENST00000376643.7:c.513C>T ENSP00000365831.3:p.Tyr171=
ENST00000423941.6:c.513C>T ENSP00000392815.2:p.Tyr171=
ENST00000426196.5:c.513C>T ENSP00000402189.1:p.Tyr171=
ENST00000430858.2:n.615C>T
ENST00000438518.6:c.*768C>T ENSP00000403370.2:n.*768C>T
ENST00000440653.1:c.513C>T ENSP00000394377.1:p.Tyr171=
ENST00000440653.2:c.513C>T ENSP00000394377.2:p.Tyr171=
ENST00000443563.6:c.513C>T ENSP00000402751.2:p.Tyr171=
ENST00000461608.1:n.25C>T
ENST00000461608.2:c.513C>T ENSP00000496032.2:p.Tyr171=
ENST00000462730.5:n.1496C>T
ENST00000468949.1:n.511C>T
ENST00000469223.5:n.572C>T
ENST00000469223.6:c.348C>T ENSP00000513127.1:p.Tyr116=
ENST00000477528.5:n.1327C>T
ENST00000477561.5:n.527C>T
ENST00000477561.6:c.348C>T ENSP00000513130.1:p.Tyr116=
ENST00000480525.6:c.513C>T ENSP00000495932.2:p.Tyr171=
ENST00000483656.5:n.452C>T
ENST00000483656.6:n.453C>T
ENST00000488543.2:n.615C>T
ENST00000495515.2:n.1308C>T
ENST00000498808.7:c.513C>T ENSP00000513201.1:p.Tyr171=
ENST00000642405.2:c.513C>T ENSP00000494293.2:p.Tyr171=
ENST00000643374.1:c.513C>T ENSP00000496046.1:p.Tyr171=
ENST00000643374.2:c.513C>T ENSP00000496046.1:p.Tyr171=
ENST00000643659.1:n.1342C>T
ENST00000643934.1:c.348C>T ENSP00000494503.1:p.Tyr116=
ENST00000644068.1:c.513C>T ENSP00000496013.1:p.Tyr171=
ENST00000644164.2:n.615C>T
ENST00000645643.2:n.645C>T
ENST00000646703.1:c.160+3506C>T ENSP00000493921.1:n.160+3506C>T
ENST00000646703.2:c.160+3506C>T ENSP00000493921.2:n.160+3506C>T
ENST00000647398.1:c.511C>T
ENST00000647398.2:c.*180C>T ENSP00000494230.2:n.*180C>T
ENST00000697246.1:n.1346C>T
ENST00000697266.1:n.571C>T
ENST00000697267.1:n.1318C>T
ENST00000697268.1:n.1290C>T
ENST00000697281.1:n.975+772C>T
ENST00000697319.1:n.514C>T
ENST00000697320.1:c.348C>T ENSP00000513249.1:p.Tyr116=
ENST00000697328.1:c.312-1590C>T ENSP00000513257.1:n.312-1590C>T
ENST00000697345.1:n.1315C>T
ENST00000697346.1:n.1290C>T
ENST00000697347.1:n.1308C>T
ENST00000697348.1:c.*768C>T ENSP00000513273.1:n.*768C>T
ENST00000697349.1:c.501C>T ENSP00000513274.1:p.Tyr167=
ENST00000697368.1:c.513C>T ENSP00000513280.1:p.Tyr171=
ENST00000697369.1:n.615C>T
ENST00000697370.1:n.1268C>T
ENST00000697372.1:n.615C>T
ENST00000697373.1:n.1265C>T
ENST00000697385.1:n.1332C>T
ENST00000697386.1:n.619C>T
ENST00000697387.1:n.615C>T
ENST00000697388.1:n.1308C>T
ENST00000697389.1:n.1284C>T
ENST00000697417.2:n.1274C>T
ENST00000697418.1:n.572C>T
ENST00000697552.1:n.611C>T
ENST00000697553.1:n.603C>T
ENST00000697554.1:n.586C>T
ENST00000697852.1:n.1290C>T
ENST00000697885.1:n.615C>T
ENST00000697886.1:c.513C>T ENSP00000513468.1:p.Tyr171=
ENST00000697887.1:n.615C>T
ENST00000697888.1:n.619C>T
ENST00000697889.1:n.1329C>T
ENST00000697890.1:n.642C>T
ENST00000697891.1:n.630C>T
ENST00000697892.1:n.1308C>T
ENST00000697893.1:n.1311C>T
ENST00000697894.1:n.1290C>T
ENST00000697895.1:n.630C>T
ENST00000697896.1:n.615C>T
XM_005272564.2:c.555C>T XP_005272621.2:p.Tyr185=
XM_005272565.1:c.513C>T XP_005272622.1:p.Tyr171=
XM_005272566.2:c.513C>T XP_005272623.1:p.Tyr171=
XM_005272568.1:c.513C>T XP_005272625.1:p.Tyr171=
XM_006724525.1:c.513C>T XP_006724588.1:p.Tyr171=
XM_017029187.1:c.555C>T XP_016884676.1:p.Tyr185=
XR_001755632.2:n.619C>T
XR_002958755.1:n.592C>T
XR_002958756.1:n.592C>T
XR_002958757.1:n.592C>T
XR_246712.2:n.592C>T
XR_949014.1:n.592C>T