Canonical Allele Identifier: CA360726634

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559261C>G , CM000667.2:g.126559261C>G	GRCh38
NC_000005.9:g.125894953C>G , CM000667.1:g.125894953C>G	GRCh37
NC_000005.8:g.125922852C>G	NCBI36
NG_008600.2:g.41130G>C
NG_008600.3:g.41130G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.987G>C MANE Select	NP_001173.2:p.Arg329Ser
ENST00000409134.8:c.987G>C MANE Select	ENSP00000387123.3:p.Arg329Ser
NM_001182.4:c.987G>C	NP_001173.2:p.Arg329Ser
NM_001201377.1:c.903G>C	NP_001188306.1:p.Arg301Ser
NM_001201377.2:c.903G>C	NP_001188306.1:p.Arg301Ser
NM_001202404.1:c.1068G>C	NP_001189333.1:p.Arg356Ser
NM_001202404.2:c.987G>C	NP_001189333.2:p.Arg329Ser
ENST00000409134.7:c.987G>C	ENSP00000387123.3:p.Arg329Ser
ENST00000447989.6:c.1068G>C	ENSP00000414132.2:p.Arg356Ser
ENST00000458249.6:c.*896G>C	ENSP00000403929.1:n.*896G>C
ENST00000497231.6:n.1197G>C
ENST00000497231.7:n.1414G>C
ENST00000503281.5:c.576G>C
ENST00000503281.6:c.576G>C
ENST00000509459.5:c.496G>C
ENST00000509459.6:c.496G>C
ENST00000553117.5:c.987G>C	ENSP00000448593.1:p.Arg329Ser
ENST00000635851.1:c.985G>C
ENST00000636062.1:n.882G>C
ENST00000636225.1:c.*931G>C	ENSP00000490797.1:n.*931G>C
ENST00000636286.1:n.705G>C
ENST00000636482.1:n.474G>C
ENST00000636743.1:c.867G>C	ENSP00000489725.1:p.Arg289Ser
ENST00000636808.1:c.*796G>C	ENSP00000490833.1:n.*796G>C
ENST00000636872.1:c.1147G>C	ENSP00000490919.1:n.1147G>C
ENST00000636879.1:c.1032G>C	ENSP00000490811.1:p.Arg344Ser
ENST00000636886.1:c.786G>C	ENSP00000490371.1:p.Arg262Ser
ENST00000637206.1:c.913+1822G>C	ENSP00000489895.1:n.913+1822G>C
ENST00000637272.1:c.978G>C	ENSP00000489686.1:p.Arg326Ser
ENST00000637292.1:c.560G>C
ENST00000637782.1:c.987G>C	ENSP00000490024.1:p.Arg329Ser
ENST00000637964.1:c.933G>C	ENSP00000490291.1:p.Arg311Ser
ENST00000638008.1:c.*831G>C	ENSP00000490400.1:n.*831G>C
XM_011543417.1:c.582G>C	XP_011541719.1:p.Arg194Ser
XM_011543417.2:c.582G>C	XP_011541719.1:p.Arg194Ser