Canonical Allele Identifier: CA360731887

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582941C>G , CM000667.2:g.126582941C>G	GRCh38
NC_000005.9:g.125918633C>G , CM000667.1:g.125918633C>G	GRCh37
NC_000005.8:g.125946532C>G	NCBI36
NG_008600.2:g.17450G>C
NG_008600.3:g.17450G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.427G>C MANE Select	NP_001173.2:p.Gly143Arg
ENST00000409134.8:c.427G>C MANE Select	ENSP00000387123.3:p.Gly143Arg
NM_001182.4:c.427G>C	NP_001173.2:p.Gly143Arg
NM_001201377.1:c.343G>C	NP_001188306.1:p.Gly115Arg
NM_001201377.2:c.343G>C	NP_001188306.1:p.Gly115Arg
NM_001202404.1:c.508G>C	NP_001189333.1:p.Gly170Arg
NM_001202404.2:c.427G>C	NP_001189333.2:p.Gly143Arg
ENST00000409134.7:c.427G>C	ENSP00000387123.3:p.Gly143Arg
ENST00000412186.2:c.393+991G>C	ENSP00000414536.2:n.393+991G>C
ENST00000413020.5:c.427G>C	ENSP00000487936.1:p.Gly143Arg
ENST00000413020.6:c.427G>C	ENSP00000487936.1:p.Gly143Arg
ENST00000447989.6:c.508G>C	ENSP00000414132.2:p.Gly170Arg
ENST00000458249.5:c.587G>C	ENSP00000403929.1:n.587G>C
ENST00000458249.6:c.*336G>C	ENSP00000403929.1:n.*336G>C
ENST00000503281.5:c.107-5730G>C
ENST00000503281.6:c.107-5730G>C
ENST00000509270.1:c.307G>C	ENSP00000449318.1:p.Gly103Arg
ENST00000509270.2:c.361G>C	ENSP00000449318.2:p.Gly121Arg
ENST00000509459.5:c.66-5730G>C
ENST00000509459.6:c.66-5730G>C
ENST00000510111.6:c.340G>C	ENSP00000447388.1:p.Gly114Arg
ENST00000511266.5:n.348+991G>C
ENST00000511266.6:n.1149G>C
ENST00000553117.5:c.427G>C	ENSP00000448593.1:p.Gly143Arg
ENST00000635851.1:c.425G>C
ENST00000636062.1:n.322G>C
ENST00000636190.1:n.306G>C
ENST00000636225.1:c.*236G>C	ENSP00000490797.1:n.*236G>C
ENST00000636286.1:n.145G>C
ENST00000636743.1:c.307G>C	ENSP00000489725.1:p.Gly103Arg
ENST00000636808.1:c.*236G>C	ENSP00000490833.1:n.*236G>C
ENST00000636872.1:c.587G>C	ENSP00000490919.1:n.587G>C
ENST00000636879.1:c.427G>C	ENSP00000490811.1:p.Gly143Arg
ENST00000636886.1:c.226G>C	ENSP00000490371.1:p.Gly76Arg
ENST00000637070.1:n.41G>C
ENST00000637206.1:c.427G>C	ENSP00000489895.1:p.Gly143Arg
ENST00000637272.1:c.427G>C	ENSP00000489686.1:p.Gly143Arg
ENST00000637292.1:c.80G>C
ENST00000637782.1:c.427G>C	ENSP00000490024.1:p.Gly143Arg
ENST00000637964.1:c.373G>C	ENSP00000490291.1:p.Gly125Arg
ENST00000638008.1:c.*369G>C	ENSP00000490400.1:n.*369G>C
XM_011543417.1:c.22G>C	XP_011541719.1:p.Gly8Arg
XM_011543417.2:c.22G>C	XP_011541719.1:p.Gly8Arg