Canonical Allele Identifier: CA360731884

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126582940C>G , CM000667.2:g.126582940C>G	GRCh38
NC_000005.9:g.125918632C>G , CM000667.1:g.125918632C>G	GRCh37
NC_000005.8:g.125946531C>G	NCBI36
NG_008600.2:g.17451G>C
NG_008600.3:g.17451G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.428G>C MANE Select	NP_001173.2:p.Gly143Ala
ENST00000409134.8:c.428G>C MANE Select	ENSP00000387123.3:p.Gly143Ala
NM_001182.4:c.428G>C	NP_001173.2:p.Gly143Ala
NM_001201377.1:c.344G>C	NP_001188306.1:p.Gly115Ala
NM_001201377.2:c.344G>C	NP_001188306.1:p.Gly115Ala
NM_001202404.1:c.509G>C	NP_001189333.1:p.Gly170Ala
NM_001202404.2:c.428G>C	NP_001189333.2:p.Gly143Ala
ENST00000409134.7:c.428G>C	ENSP00000387123.3:p.Gly143Ala
ENST00000412186.2:c.393+992G>C	ENSP00000414536.2:n.393+992G>C
ENST00000413020.5:c.428G>C	ENSP00000487936.1:p.Gly143Ala
ENST00000413020.6:c.428G>C	ENSP00000487936.1:p.Gly143Ala
ENST00000447989.6:c.509G>C	ENSP00000414132.2:p.Gly170Ala
ENST00000458249.5:c.588G>C	ENSP00000403929.1:n.588G>C
ENST00000458249.6:c.*337G>C	ENSP00000403929.1:n.*337G>C
ENST00000503281.5:c.107-5729G>C
ENST00000503281.6:c.107-5729G>C
ENST00000509270.1:c.308G>C	ENSP00000449318.1:p.Gly103Ala
ENST00000509270.2:c.362G>C	ENSP00000449318.2:p.Gly121Ala
ENST00000509459.5:c.66-5729G>C
ENST00000509459.6:c.66-5729G>C
ENST00000510111.6:c.341G>C	ENSP00000447388.1:p.Gly114Ala
ENST00000511266.5:n.348+992G>C
ENST00000511266.6:n.1150G>C
ENST00000553117.5:c.428G>C	ENSP00000448593.1:p.Gly143Ala
ENST00000635851.1:c.426G>C
ENST00000636062.1:n.323G>C
ENST00000636190.1:n.307G>C
ENST00000636225.1:c.*237G>C	ENSP00000490797.1:n.*237G>C
ENST00000636286.1:n.146G>C
ENST00000636743.1:c.308G>C	ENSP00000489725.1:p.Gly103Ala
ENST00000636808.1:c.*237G>C	ENSP00000490833.1:n.*237G>C
ENST00000636872.1:c.588G>C	ENSP00000490919.1:n.588G>C
ENST00000636879.1:c.428G>C	ENSP00000490811.1:p.Gly143Ala
ENST00000636886.1:c.227G>C	ENSP00000490371.1:p.Gly76Ala
ENST00000637070.1:n.42G>C
ENST00000637206.1:c.428G>C	ENSP00000489895.1:p.Gly143Ala
ENST00000637272.1:c.428G>C	ENSP00000489686.1:p.Gly143Ala
ENST00000637292.1:c.81G>C
ENST00000637782.1:c.428G>C	ENSP00000490024.1:p.Gly143Ala
ENST00000637964.1:c.374G>C	ENSP00000490291.1:p.Gly125Ala
ENST00000638008.1:c.*370G>C	ENSP00000490400.1:n.*370G>C
XM_011543417.1:c.23G>C	XP_011541719.1:p.Gly8Ala
XM_011543417.2:c.23G>C	XP_011541719.1:p.Gly8Ala