Canonical Allele Identifier: CA382618054

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112061053A>T , CM000673.2:g.112061053A>T GRCh38
NC_000011.9:g.111931777A>T , CM000673.1:g.111931777A>T GRCh37
NC_000011.8:g.111436987A>T NCBI36
NG_013342.1:g.41240A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000713569.1:c.1693A>T (DLAT) ENSP00000518862.1:p.Ile565Phe
ENST00000280346.11:c.1693A>T (DLAT) MANE Select ENSP00000280346.7:p.Ile565Phe
ENST00000527231.2:n.1740A>T (DLAT)
ENST00000531306.2:c.1312A>T (DLAT) ENSP00000433432.2:p.Ile438Phe
ENST00000679368.1:c.*620A>T (DLAT) ENSP00000505314.1:n.*620A>T
ENST00000679614.1:c.1090A>T (DLAT) ENSP00000506007.1:p.Ile364Phe
ENST00000679815.1:c.*1126A>T (DLAT) ENSP00000504880.1:n.*1126A>T
ENST00000679878.1:c.1660A>T (DLAT) ENSP00000505567.1:p.Ile554Phe
ENST00000680010.1:c.*834A>T (DLAT) ENSP00000505768.1:n.*834A>T
ENST00000680154.1:n.1024A>T (DLAT)
ENST00000680331.1:c.1414A>T (DLAT) ENSP00000506707.1:p.Ile472Phe
ENST00000680411.1:c.1438A>T (DLAT) ENSP00000505915.1:p.Ile480Phe
ENST00000681316.1:c.1687A>T (DLAT) ENSP00000506560.1:p.Ile563Phe
ENST00000681328.1:c.1672A>T (DLAT) ENSP00000506355.1:p.Ile558Phe
ENST00000681339.1:c.1585A>T (DLAT) ENSP00000506167.1:p.Ile529Phe
ENST00000681638.1:c.*1046A>T (DLAT) ENSP00000506090.1:n.*1046A>T
ENST00000280346.10:c.1693A>T (DLAT) ENSP00000280346.6:p.Ile565Phe
ENST00000393051.5:c.1378A>T (DLAT) ENSP00000376771.1:p.Ile460Phe
ENST00000527231.1:n.87A>T (DLAT)
ENST00000531306.1:c.1189A>T (DLAT) ENSP00000433432.1:p.Ile397Phe
ENST00000533297.1:c.*1368A>T (DLAT) ENSP00000435374.1:n.*1368A>T
NM_001931.4:c.1693A>T (DLAT) NP_001922.2:p.Ile565Phe
XM_011542590.1:c.814-259T>A (PIH1D2) XP_011540892.1:n.814-259T>A
XM_011542592.1:c.814-8366T>A (PIH1D2) XP_011540894.1:n.814-8366T>A
XM_011542647.1:c.1585A>T (DLAT) XP_011540949.1:p.Ile529Phe
XM_011542647.3:c.1585A>T (DLAT) XP_011540949.1:p.Ile529Phe
XM_017017202.2:c.814-5273T>A (PIH1D2) XP_016872691.1:n.814-5273T>A
XM_017017203.2:c.814-259T>A (PIH1D2) XP_016872692.1:n.814-259T>A
XM_017017204.2:c.814-5302T>A (PIH1D2) XP_016872693.1:n.814-5302T>A
XM_017017205.2:c.814-8366T>A (PIH1D2) XP_016872694.1:n.814-8366T>A
NM_001372031.1:c.1711A>T (DLAT) NP_001358960.1:p.Ile571Phe
NM_001372032.1:c.1687A>T (DLAT) NP_001358961.1:p.Ile563Phe
NM_001372033.1:c.1672A>T (DLAT) NP_001358962.1:p.Ile558Phe
NM_001372034.1:c.1660A>T (DLAT) NP_001358963.1:p.Ile554Phe
NM_001372035.1:c.1585A>T (DLAT) NP_001358964.1:p.Ile529Phe
NM_001372036.1:c.1567A>T (DLAT) NP_001358965.1:p.Ile523Phe
NM_001372037.1:c.1525A>T (DLAT) NP_001358966.1:p.Ile509Phe
NM_001372038.1:c.1414A>T (DLAT) NP_001358967.1:p.Ile472Phe
NM_001372039.1:c.1378A>T (DLAT) NP_001358968.1:p.Ile460Phe
NM_001372040.1:c.1312A>T (DLAT) NP_001358969.1:p.Ile438Phe
NM_001372041.1:c.1270A>T (DLAT) NP_001358970.1:p.Ile424Phe
NM_001372042.1:c.1231A>T (DLAT) NP_001358971.1:p.Ile411Phe
NM_001931.5:c.1693A>T (DLAT) MANE Select NP_001922.2:p.Ile565Phe
NR_164072.1:n.1570A>T (DLAT)