Canonical Allele Identifier: CA360731226

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126577199G>A , CM000667.2:g.126577199G>A	GRCh38
NC_000005.9:g.125912891G>A , CM000667.1:g.125912891G>A	GRCh37
NC_000005.8:g.125940790G>A	NCBI36
NG_008600.2:g.23192C>T
NG_008600.3:g.23192C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.530C>T MANE Select	ENSP00000387123.3:p.Ala177Val
ENST00000412186.2:c.406C>T	ENSP00000414536.2:p.His136Tyr
ENST00000413020.6:c.530C>T	ENSP00000487936.1:p.Ala177Val
ENST00000458249.6:c.*439C>T	ENSP00000403929.1:n.*439C>T
ENST00000503281.6:c.119C>T
ENST00000509270.2:c.464C>T	ENSP00000449318.2:p.Ala155Val
ENST00000509459.6:c.78C>T
ENST00000511266.6:n.1252C>T
ENST00000635851.1:c.528C>T
ENST00000636062.1:n.425C>T
ENST00000636225.1:c.*339C>T	ENSP00000490797.1:n.*339C>T
ENST00000636286.1:n.248C>T
ENST00000636743.1:c.410C>T	ENSP00000489725.1:p.Ala137Val
ENST00000636808.1:c.*339C>T	ENSP00000490833.1:n.*339C>T
ENST00000636872.1:c.690C>T	ENSP00000490919.1:n.690C>T
ENST00000636879.1:c.575C>T	ENSP00000490811.1:p.Ala192Val
ENST00000636886.1:c.329C>T	ENSP00000490371.1:p.Ala110Val
ENST00000637206.1:c.530C>T	ENSP00000489895.1:p.Ala177Val
ENST00000637272.1:c.530C>T	ENSP00000489686.1:p.Ala177Val
ENST00000637292.1:c.183C>T
ENST00000637782.1:c.530C>T	ENSP00000490024.1:p.Ala177Val
ENST00000637964.1:c.476C>T	ENSP00000490291.1:p.Ala159Val
ENST00000638008.1:c.*472C>T	ENSP00000490400.1:n.*472C>T
ENST00000409134.7:c.530C>T	ENSP00000387123.3:p.Ala177Val
ENST00000413020.5:c.530C>T	ENSP00000487936.1:p.Ala177Val
ENST00000433026.5:n.57C>T
ENST00000447989.6:c.611C>T	ENSP00000414132.2:p.Ala204Val
ENST00000458249.5:c.690C>T	ENSP00000403929.1:n.690C>T
ENST00000503281.5:c.119C>T
ENST00000509270.1:c.410C>T	ENSP00000449318.1:p.Ala137Val
ENST00000509459.5:c.78C>T
ENST00000510111.6:c.443C>T	ENSP00000447388.1:p.Ala148Val
ENST00000511266.5:n.361C>T
ENST00000553117.5:c.530C>T	ENSP00000448593.1:p.Ala177Val
NM_001182.4:c.530C>T	NP_001173.2:p.Ala177Val
NM_001201377.1:c.446C>T	NP_001188306.1:p.Ala149Val
NM_001202404.1:c.611C>T	NP_001189333.1:p.Ala204Val
XM_011543417.1:c.125C>T	XP_011541719.1:p.Ala42Val
XM_011543417.2:c.125C>T	XP_011541719.1:p.Ala42Val
NM_001182.5:c.530C>T MANE Select	NP_001173.2:p.Ala177Val
NM_001201377.2:c.446C>T	NP_001188306.1:p.Ala149Val
NM_001202404.2:c.530C>T	NP_001189333.2:p.Ala177Val