Canonical Allele Identifier: CA360726920

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126561098T>C , CM000667.2:g.126561098T>C	GRCh38
NC_000005.9:g.125896790T>C , CM000667.1:g.125896790T>C	GRCh37
NC_000005.8:g.125924689T>C	NCBI36
NG_008600.2:g.39293A>G
NG_008600.3:g.39293A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.898A>G MANE Select	NP_001173.2:p.Asn300Asp
ENST00000409134.8:c.898A>G MANE Select	ENSP00000387123.3:p.Asn300Asp
NM_001182.4:c.898A>G	NP_001173.2:p.Asn300Asp
NM_001201377.1:c.814A>G	NP_001188306.1:p.Asn272Asp
NM_001201377.2:c.814A>G	NP_001188306.1:p.Asn272Asp
NM_001202404.1:c.979A>G	NP_001189333.1:p.Asn327Asp
NM_001202404.2:c.898A>G	NP_001189333.2:p.Asn300Asp
ENST00000409134.7:c.898A>G	ENSP00000387123.3:p.Asn300Asp
ENST00000447989.6:c.979A>G	ENSP00000414132.2:p.Asn327Asp
ENST00000458249.6:c.*807A>G	ENSP00000403929.1:n.*807A>G
ENST00000497231.6:n.1108A>G
ENST00000497231.7:n.1325A>G
ENST00000503281.5:c.487A>G
ENST00000503281.6:c.487A>G
ENST00000509459.5:c.446A>G
ENST00000509459.6:c.446A>G
ENST00000553117.5:c.898A>G	ENSP00000448593.1:p.Asn300Asp
ENST00000635851.1:c.896A>G
ENST00000636062.1:n.793A>G
ENST00000636225.1:c.*842A>G	ENSP00000490797.1:n.*842A>G
ENST00000636286.1:n.616A>G
ENST00000636482.1:n.385A>G
ENST00000636743.1:c.778A>G	ENSP00000489725.1:p.Asn260Asp
ENST00000636808.1:c.*707A>G	ENSP00000490833.1:n.*707A>G
ENST00000636872.1:c.1058A>G	ENSP00000490919.1:n.1058A>G
ENST00000636879.1:c.943A>G	ENSP00000490811.1:p.Asn315Asp
ENST00000636886.1:c.697A>G	ENSP00000490371.1:p.Asn233Asp
ENST00000637206.1:c.898A>G	ENSP00000489895.1:p.Asn300Asp
ENST00000637272.1:c.898A>G	ENSP00000489686.1:p.Asn300Asp
ENST00000637292.1:c.453A>G
ENST00000637782.1:c.898A>G	ENSP00000490024.1:p.Asn300Asp
ENST00000637964.1:c.844A>G	ENSP00000490291.1:p.Asn282Asp
ENST00000638008.1:c.*742A>G	ENSP00000490400.1:n.*742A>G
XM_011543417.1:c.493A>G	XP_011541719.1:p.Asn165Asp
XM_011543417.2:c.493A>G	XP_011541719.1:p.Asn165Asp