Canonical Allele Identifier: CA371550519
Community Standard Title: NM_018972.4(GDAP1):c.907G>A (p.Ala303Thr)
Gene: GDAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364197G>A , CM000670.2:g.74364197G>A GRCh38
NC_000008.10:g.75276432G>A , CM000670.1:g.75276432G>A GRCh37
NC_000008.9:g.75438987G>A NCBI36
NG_008787.2:g.48068G>A
NG_008787.3:g.48068G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018972.4:c.907G>A MANE Select NP_061845.2:p.Ala303Thr
ENST00000220822.12:c.907G>A MANE Select ENSP00000220822.7:p.Ala303Thr
NM_001040875.2:c.703G>A NP_001035808.1:p.Ala235Thr
NM_001040875.3:c.703G>A NP_001035808.1:p.Ala235Thr
NM_001040875.4:c.703G>A NP_001035808.1:p.Ala235Thr
NM_001362929.1:c.580G>A NP_001349858.1:p.Ala194Thr
NM_001362929.2:c.580G>A NP_001349858.1:p.Ala194Thr
NM_001362930.1:c.733G>A NP_001349859.1:p.Ala245Thr
NM_001362930.2:c.733G>A NP_001349859.1:p.Ala245Thr
NM_001362931.1:c.694+1144G>A NP_001349860.1:n.694+1144G>A
NM_001362931.2:c.694+1144G>A NP_001349860.1:n.694+1144G>A
NM_001362932.1:c.580G>A NP_001349861.1:p.Ala194Thr
NM_001362932.2:c.580G>A NP_001349861.1:p.Ala194Thr
NM_018972.2:c.907G>A NP_061845.2:p.Ala303Thr
NM_018972.3:c.907G>A NP_061845.2:p.Ala303Thr
NR_046346.1:n.841G>A
ENST00000220822.11:c.907G>A ENSP00000220822.7:p.Ala303Thr
ENST00000434412.2:c.703G>A ENSP00000417006.2:p.Ala235Thr
ENST00000434412.3:c.775G>A ENSP00000417006.3:p.Ala259Thr
ENST00000520797.5:n.672G>A
ENST00000520797.6:n.1018G>A
ENST00000521096.5:n.713G>A
ENST00000521096.6:n.763G>A
ENST00000522568.1:c.*579G>A ENSP00000430136.1:n.*579G>A
ENST00000522568.2:c.*545+34G>A ENSP00000430136.1:n.*545+34G>A
ENST00000523640.2:c.165+12876G>A ENSP00000502017.1:n.165+12876G>A
ENST00000524195.1:n.103+1144G>A
ENST00000524195.2:c.280+1144G>A ENSP00000502308.1:n.280+1144G>A
ENST00000674612.1:c.580G>A ENSP00000501864.1:p.Ala194Thr
ENST00000674710.1:c.694+1144G>A ENSP00000502762.1:n.694+1144G>A
ENST00000674754.1:c.*2470G>A ENSP00000502063.1:n.*2470G>A
ENST00000674756.1:c.*366+1144G>A ENSP00000501860.1:n.*366+1144G>A
ENST00000674806.1:c.580G>A ENSP00000502637.1:p.Ala194Thr
ENST00000674865.1:c.703G>A ENSP00000502437.1:p.Ala235Thr
ENST00000674926.1:c.*1539G>A ENSP00000501799.1:n.*1539G>A
ENST00000674934.1:c.*595G>A ENSP00000502187.1:n.*595G>A
ENST00000674944.1:c.*1510G>A ENSP00000501858.1:n.*1510G>A
ENST00000674946.1:c.694+1144G>A ENSP00000501569.1:n.694+1144G>A
ENST00000674973.1:c.601G>A ENSP00000502447.1:p.Ala201Thr
ENST00000675007.1:c.*645G>A ENSP00000502119.1:n.*645G>A
ENST00000675060.1:c.*572G>A ENSP00000501616.1:n.*572G>A
ENST00000675165.1:c.904G>A ENSP00000502612.1:p.Ala302Thr
ENST00000675220.1:c.580G>A ENSP00000502588.1:p.Ala194Thr
ENST00000675265.1:c.*657G>A ENSP00000501848.1:n.*657G>A
ENST00000675336.1:c.*393G>A ENSP00000502120.1:n.*393G>A
ENST00000675376.1:c.580G>A ENSP00000502838.1:p.Ala194Thr
ENST00000675463.1:c.985G>A ENSP00000502327.1:p.Ala329Thr
ENST00000675472.1:c.*393G>A ENSP00000501946.1:n.*393G>A
ENST00000675474.1:n.492G>A
ENST00000675560.1:c.*366+1144G>A ENSP00000502118.1:n.*366+1144G>A
ENST00000675625.1:c.*579G>A ENSP00000501626.1:n.*579G>A
ENST00000675633.1:c.*314G>A ENSP00000501785.1:n.*314G>A
ENST00000675661.1:c.*667G>A ENSP00000501958.1:n.*667G>A
ENST00000675706.1:n.2865G>A
ENST00000675821.1:c.580G>A ENSP00000502198.1:p.Ala194Thr
ENST00000675832.1:c.*579G>A ENSP00000502041.1:n.*579G>A
ENST00000675928.1:c.733G>A ENSP00000501568.1:p.Ala245Thr
ENST00000675944.1:c.703G>A ENSP00000502673.1:p.Ala235Thr
ENST00000675999.1:c.694+1144G>A ENSP00000502572.1:n.694+1144G>A
ENST00000676049.1:c.*809G>A ENSP00000501912.1:n.*809G>A
ENST00000676112.1:c.973G>A ENSP00000502295.1:p.Ala325Thr
ENST00000676143.1:c.580G>A ENSP00000502828.1:p.Ala194Thr
ENST00000676207.1:c.694+1144G>A ENSP00000502638.1:n.694+1144G>A
ENST00000676377.1:c.580G>A ENSP00000502756.1:p.Ala194Thr
ENST00000676415.1:c.*213G>A ENSP00000502665.1:n.*213G>A
ENST00000676443.1:c.859G>A ENSP00000501769.1:p.Ala287Thr
XM_011517551.1:c.1201G>A XP_011515853.1:p.Ala401Thr
XM_011517552.1:c.580G>A XP_011515854.1:p.Ala194Thr