Canonical Allele Identifier: CA360722802

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126552038-A-C
• MyVariant Identifiers: chr5:g.125887730A>C (hg19) ; chr5:g.126552038A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552038A>C , CM000667.2:g.126552038A>C	GRCh38
NC_000005.9:g.125887730A>C , CM000667.1:g.125887730A>C	GRCh37
NC_000005.8:g.125915629A>C	NCBI36
NG_008600.2:g.48353T>G
NG_008600.3:g.48353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1300T>G MANE Select	ENSP00000387123.3:p.Tyr434Asp
ENST00000458249.6:c.*1209T>G	ENSP00000403929.1:n.*1209T>G
ENST00000497231.7:n.1727T>G
ENST00000503281.6:c.889T>G
ENST00000635851.1:c.1298T>G
ENST00000636062.1:n.1195T>G
ENST00000636225.1:c.*1244T>G	ENSP00000490797.1:n.*1244T>G
ENST00000636286.1:n.1018T>G
ENST00000636482.1:n.787T>G
ENST00000636743.1:c.1180T>G	ENSP00000489725.1:p.Tyr394Asp
ENST00000636808.1:c.*1109T>G	ENSP00000490833.1:n.*1109T>G
ENST00000636872.1:c.1460T>G	ENSP00000490919.1:n.1460T>G
ENST00000636879.1:c.1345T>G	ENSP00000490811.1:p.Tyr449Asp
ENST00000636886.1:c.1099T>G	ENSP00000490371.1:p.Tyr367Asp
ENST00000637206.1:c.1120T>G	ENSP00000489895.1:p.Tyr374Asp
ENST00000637272.1:c.1291T>G	ENSP00000489686.1:p.Tyr431Asp
ENST00000637292.1:c.774-1745T>G
ENST00000637782.1:c.1300T>G	ENSP00000490024.1:p.Tyr434Asp
ENST00000638008.1:c.*1144T>G	ENSP00000490400.1:n.*1144T>G
ENST00000638010.1:n.1246T>G
ENST00000409134.7:c.1300T>G	ENSP00000387123.3:p.Tyr434Asp
ENST00000447989.6:c.1189T>G	ENSP00000414132.2:p.Tyr397Asp
ENST00000476328.1:n.65T>G
ENST00000497231.6:n.1510T>G
ENST00000503281.5:c.889T>G
ENST00000553117.5:c.1108T>G	ENSP00000448593.1:p.Tyr370Asp
NM_001182.4:c.1300T>G	NP_001173.2:p.Tyr434Asp
NM_001201377.1:c.1216T>G	NP_001188306.1:p.Tyr406Asp
NM_001202404.1:c.1189T>G	NP_001189333.1:p.Tyr397Asp
XM_011543417.1:c.895T>G	XP_011541719.1:p.Tyr299Asp
XM_011543417.2:c.895T>G	XP_011541719.1:p.Tyr299Asp
NM_001182.5:c.1300T>G MANE Select	NP_001173.2:p.Tyr434Asp
NM_001201377.2:c.1216T>G	NP_001188306.1:p.Tyr406Asp
NM_001202404.2:c.1108T>G	NP_001189333.2:p.Tyr370Asp