Canonical Allele Identifier: CA446283964

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126577096-A-G
• MyVariant Identifiers: chr5:g.125912788A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577096A>G , CM000667.2:g.126577096A>G	GRCh38
NC_000005.9:g.125912788A>G , CM000667.1:g.125912788A>G	GRCh37
NC_000005.8:g.125940687A>G	NCBI36
NG_008600.2:g.23295T>C
NG_008600.3:g.23295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.633T>C MANE Select	ENSP00000387123.3:p.Cys211=
ENST00000412186.2:c.509T>C	ENSP00000414536.2:n.509T>C
ENST00000413020.6:c.633T>C	ENSP00000487936.1:p.Cys211=
ENST00000458249.6:c.*542T>C	ENSP00000403929.1:n.*542T>C
ENST00000503281.6:c.222T>C
ENST00000509270.2:c.567T>C	ENSP00000449318.2:p.Cys189=
ENST00000509459.6:c.181T>C
ENST00000511266.6:n.1355T>C
ENST00000635851.1:c.631T>C
ENST00000636062.1:n.528T>C
ENST00000636225.1:c.*442T>C	ENSP00000490797.1:n.*442T>C
ENST00000636286.1:n.351T>C
ENST00000636743.1:c.513T>C	ENSP00000489725.1:p.Cys171=
ENST00000636808.1:c.*442T>C	ENSP00000490833.1:n.*442T>C
ENST00000636872.1:c.793T>C	ENSP00000490919.1:n.793T>C
ENST00000636879.1:c.678T>C	ENSP00000490811.1:p.Cys226=
ENST00000636886.1:c.432T>C	ENSP00000490371.1:p.Cys144=
ENST00000637206.1:c.633T>C	ENSP00000489895.1:p.Cys211=
ENST00000637272.1:c.633T>C	ENSP00000489686.1:p.Cys211=
ENST00000637292.1:c.286T>C
ENST00000637782.1:c.633T>C	ENSP00000490024.1:p.Cys211=
ENST00000637964.1:c.579T>C	ENSP00000490291.1:p.Cys193=
ENST00000638008.1:c.*575T>C	ENSP00000490400.1:n.*575T>C
ENST00000409134.7:c.633T>C	ENSP00000387123.3:p.Cys211=
ENST00000413020.5:c.633T>C	ENSP00000487936.1:p.Cys211=
ENST00000433026.5:n.160T>C
ENST00000447989.6:c.714T>C	ENSP00000414132.2:p.Cys238=
ENST00000458249.5:c.793T>C	ENSP00000403929.1:n.793T>C
ENST00000503281.5:c.222T>C
ENST00000509459.5:c.181T>C
ENST00000510111.6:c.546T>C	ENSP00000447388.1:p.Cys182=
ENST00000511266.5:n.464T>C
ENST00000553117.5:c.633T>C	ENSP00000448593.1:p.Cys211=
NM_001182.4:c.633T>C	NP_001173.2:p.Cys211=
NM_001201377.1:c.549T>C	NP_001188306.1:p.Cys183=
NM_001202404.1:c.714T>C	NP_001189333.1:p.Cys238=
XM_011543417.1:c.228T>C	XP_011541719.1:p.Cys76=
XM_011543417.2:c.228T>C	XP_011541719.1:p.Cys76=
NM_001182.5:c.633T>C MANE Select	NP_001173.2:p.Cys211=
NM_001201377.2:c.549T>C	NP_001188306.1:p.Cys183=
NM_001202404.2:c.633T>C	NP_001189333.2:p.Cys211=