Canonical Allele Identifier: CA360730943

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 1012739
• ClinVar RCV Id: RCV001310865
• dbSNP Id: rs1750999210
• MyVariant Identifiers: chr5:g.125912776G>T (hg19) ; chr5:g.126577084G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577084G>T , CM000667.2:g.126577084G>T	GRCh38
NC_000005.9:g.125912776G>T , CM000667.1:g.125912776G>T	GRCh37
NC_000005.8:g.125940675G>T	NCBI36
NG_008600.2:g.23307C>A
NG_008600.3:g.23307C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.645C>A MANE Select	ENSP00000387123.3:p.Cys215Ter
ENST00000412186.2:c.521C>A	ENSP00000414536.2:n.521C>A
ENST00000413020.6:c.645C>A	ENSP00000487936.1:p.Cys215Ter
ENST00000458249.6:c.*554C>A	ENSP00000403929.1:n.*554C>A
ENST00000503281.6:c.234C>A
ENST00000509270.2:c.579C>A	ENSP00000449318.2:p.Cys193Ter
ENST00000509459.6:c.193C>A
ENST00000511266.6:n.1367C>A
ENST00000635851.1:c.643C>A
ENST00000636062.1:n.540C>A
ENST00000636225.1:c.*454C>A	ENSP00000490797.1:n.*454C>A
ENST00000636286.1:n.363C>A
ENST00000636743.1:c.525C>A	ENSP00000489725.1:p.Cys175Ter
ENST00000636808.1:c.*454C>A	ENSP00000490833.1:n.*454C>A
ENST00000636872.1:c.805C>A	ENSP00000490919.1:n.805C>A
ENST00000636879.1:c.690C>A	ENSP00000490811.1:p.Cys230Ter
ENST00000636886.1:c.444C>A	ENSP00000490371.1:p.Cys148Ter
ENST00000637206.1:c.645C>A	ENSP00000489895.1:p.Cys215Ter
ENST00000637272.1:c.645C>A	ENSP00000489686.1:p.Cys215Ter
ENST00000637292.1:c.298C>A
ENST00000637782.1:c.645C>A	ENSP00000490024.1:p.Cys215Ter
ENST00000637964.1:c.591C>A	ENSP00000490291.1:p.Cys197Ter
ENST00000638008.1:c.*587C>A	ENSP00000490400.1:n.*587C>A
ENST00000409134.7:c.645C>A	ENSP00000387123.3:p.Cys215Ter
ENST00000413020.5:c.645C>A	ENSP00000487936.1:p.Cys215Ter
ENST00000433026.5:n.172C>A
ENST00000447989.6:c.726C>A	ENSP00000414132.2:p.Cys242Ter
ENST00000458249.5:c.805C>A	ENSP00000403929.1:n.805C>A
ENST00000503281.5:c.234C>A
ENST00000509459.5:c.193C>A
ENST00000510111.6:c.558C>A	ENSP00000447388.1:p.Cys186Ter
ENST00000511266.5:n.476C>A
ENST00000553117.5:c.645C>A	ENSP00000448593.1:p.Cys215Ter
NM_001182.4:c.645C>A	NP_001173.2:p.Cys215Ter
NM_001201377.1:c.561C>A	NP_001188306.1:p.Cys187Ter
NM_001202404.1:c.726C>A	NP_001189333.1:p.Cys242Ter
XM_011543417.1:c.240C>A	XP_011541719.1:p.Cys80Ter
XM_011543417.2:c.240C>A	XP_011541719.1:p.Cys80Ter
NM_001182.5:c.645C>A MANE Select	NP_001173.2:p.Cys215Ter
NM_001201377.2:c.561C>A	NP_001188306.1:p.Cys187Ter
NM_001202404.2:c.645C>A	NP_001189333.2:p.Cys215Ter