Canonical Allele Identifier: CA126889823

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126559245G>A , CM000667.2:g.126559245G>A	GRCh38
NC_000005.9:g.125894937G>A , CM000667.1:g.125894937G>A	GRCh37
NC_000005.8:g.125922836G>A	NCBI36
NG_008600.2:g.41146C>T
NG_008600.3:g.41146C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1003C>T MANE Select	NP_001173.2:p.Arg335Ter
ENST00000409134.8:c.1003C>T MANE Select	ENSP00000387123.3:p.Arg335Ter
NM_001182.4:c.1003C>T	NP_001173.2:p.Arg335Ter
NM_001201377.1:c.919C>T	NP_001188306.1:p.Arg307Ter
NM_001201377.2:c.919C>T	NP_001188306.1:p.Arg307Ter
NM_001202404.1:c.1084C>T	NP_001189333.1:p.Arg362Ter
NM_001202404.2:c.1003C>T	NP_001189333.2:p.Arg335Ter
ENST00000409134.7:c.1003C>T	ENSP00000387123.3:p.Arg335Ter
ENST00000447989.6:c.1084C>T	ENSP00000414132.2:p.Arg362Ter
ENST00000458249.6:c.*912C>T	ENSP00000403929.1:n.*912C>T
ENST00000497231.6:n.1213C>T
ENST00000497231.7:n.1430C>T
ENST00000503281.5:c.592C>T
ENST00000503281.6:c.592C>T
ENST00000509459.5:c.512C>T
ENST00000509459.6:c.512C>T
ENST00000553117.5:c.1003C>T	ENSP00000448593.1:p.Arg335Ter
ENST00000635851.1:c.1001C>T
ENST00000636062.1:n.898C>T
ENST00000636225.1:c.*947C>T	ENSP00000490797.1:n.*947C>T
ENST00000636286.1:n.721C>T
ENST00000636482.1:n.490C>T
ENST00000636743.1:c.883C>T	ENSP00000489725.1:p.Arg295Ter
ENST00000636808.1:c.*812C>T	ENSP00000490833.1:n.*812C>T
ENST00000636872.1:c.1163C>T	ENSP00000490919.1:n.1163C>T
ENST00000636879.1:c.1048C>T	ENSP00000490811.1:p.Arg350Ter
ENST00000636886.1:c.802C>T	ENSP00000490371.1:p.Arg268Ter
ENST00000637206.1:c.913+1838C>T	ENSP00000489895.1:n.913+1838C>T
ENST00000637272.1:c.994C>T	ENSP00000489686.1:p.Arg332Ter
ENST00000637292.1:c.576C>T
ENST00000637782.1:c.1003C>T	ENSP00000490024.1:p.Arg335Ter
ENST00000637964.1:c.949C>T	ENSP00000490291.1:p.Arg317Ter
ENST00000638008.1:c.*847C>T	ENSP00000490400.1:n.*847C>T
XM_011543417.1:c.598C>T	XP_011541719.1:p.Arg200Ter
XM_011543417.2:c.598C>T	XP_011541719.1:p.Arg200Ter