Canonical Allele Identifier: CA3389369

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1519278
• ClinVar RCV Id: RCV002043679
• dbSNP Id: rs745592760
• ExAC: 5:125882017 A / T
• gnomAD v2: 5-125882017-A-T
• gnomAD v4: 5-126546325-A-T
• MyVariant Identifiers: chr5:g.125882017A>T (hg19) ; chr5:g.126546325A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546325A>T , CM000667.2:g.126546325A>T	GRCh38
NC_000005.9:g.125882017A>T , CM000667.1:g.125882017A>T	GRCh37
NC_000005.8:g.125909916A>T	NCBI36
NG_008600.2:g.54066T>A
NG_008600.3:g.54066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1564T>A MANE Select	ENSP00000387123.3:p.Cys522Ser
ENST00000458249.6:c.*1473T>A	ENSP00000403929.1:n.*1473T>A
ENST00000485852.7:n.311T>A
ENST00000497231.7:n.1991T>A
ENST00000635851.1:c.1562T>A
ENST00000636286.1:n.1329T>A
ENST00000636482.1:n.1098T>A
ENST00000636743.1:c.1444T>A	ENSP00000489725.1:p.Cys482Ser
ENST00000636808.1:c.*1373T>A	ENSP00000490833.1:n.*1373T>A
ENST00000636872.1:c.1724T>A	ENSP00000490919.1:n.1724T>A
ENST00000636879.1:c.1609T>A	ENSP00000490811.1:p.Cys537Ser
ENST00000636886.1:c.1363T>A	ENSP00000490371.1:p.Cys455Ser
ENST00000637206.1:c.1384T>A	ENSP00000489895.1:p.Cys462Ser
ENST00000637272.1:c.1555T>A	ENSP00000489686.1:p.Cys519Ser
ENST00000637292.1:c.1020T>A
ENST00000637782.1:c.1564T>A	ENSP00000490024.1:p.Ter522Arg
ENST00000638008.1:c.*1408T>A	ENSP00000490400.1:n.*1408T>A
ENST00000638010.1:n.1510T>A
ENST00000409134.7:c.1564T>A	ENSP00000387123.3:p.Cys522Ser
ENST00000447989.6:c.1453T>A	ENSP00000414132.2:p.Cys485Ser
ENST00000485852.6:n.311T>A
ENST00000497231.6:n.1774T>A
ENST00000553117.5:c.1372T>A	ENSP00000448593.1:p.Cys458Ser
NM_001182.4:c.1564T>A	NP_001173.2:p.Cys522Ser
NM_001201377.1:c.1480T>A	NP_001188306.1:p.Cys494Ser
NM_001202404.1:c.1453T>A	NP_001189333.1:p.Cys485Ser
XM_011543417.1:c.1159T>A	XP_011541719.1:p.Cys387Ser
XM_011543417.2:c.1159T>A	XP_011541719.1:p.Cys387Ser
NM_001182.5:c.1564T>A MANE Select	NP_001173.2:p.Cys522Ser
NM_001201377.2:c.1480T>A	NP_001188306.1:p.Cys494Ser
NM_001202404.2:c.1372T>A	NP_001189333.2:p.Cys458Ser