Canonical Allele Identifier: CA360720875

Gene: ALDH7A1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126549937C>G , CM000667.2:g.126549937C>G	GRCh38
NC_000005.9:g.125885629C>G , CM000667.1:g.125885629C>G	GRCh37
NC_000005.8:g.125913528C>G	NCBI36
NG_008600.2:g.50454G>C
NG_008600.3:g.50454G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001182.5:c.1481G>C MANE Select	NP_001173.2:p.Gly494Ala
ENST00000409134.8:c.1481G>C MANE Select	ENSP00000387123.3:p.Gly494Ala
NM_001182.4:c.1481G>C	NP_001173.2:p.Gly494Ala
NM_001201377.1:c.1397G>C	NP_001188306.1:p.Gly466Ala
NM_001201377.2:c.1397G>C	NP_001188306.1:p.Gly466Ala
NM_001202404.1:c.1370G>C	NP_001189333.1:p.Gly457Ala
NM_001202404.2:c.1289G>C	NP_001189333.2:p.Gly430Ala
ENST00000409134.7:c.1481G>C	ENSP00000387123.3:p.Gly494Ala
ENST00000447989.6:c.1370G>C	ENSP00000414132.2:p.Gly457Ala
ENST00000458249.6:c.*1390G>C	ENSP00000403929.1:n.*1390G>C
ENST00000476328.1:n.439G>C
ENST00000485852.6:n.228G>C
ENST00000485852.7:n.228G>C
ENST00000497231.6:n.1691G>C
ENST00000497231.7:n.1908G>C
ENST00000553117.5:c.1289G>C	ENSP00000448593.1:p.Gly430Ala
ENST00000635851.1:c.1479G>C
ENST00000636062.1:n.1376G>C
ENST00000636225.1:c.*1425G>C	ENSP00000490797.1:n.*1425G>C
ENST00000636286.1:n.1246G>C
ENST00000636482.1:n.1015G>C
ENST00000636743.1:c.1361G>C	ENSP00000489725.1:p.Gly454Ala
ENST00000636808.1:c.*1290G>C	ENSP00000490833.1:n.*1290G>C
ENST00000636872.1:c.1641G>C	ENSP00000490919.1:n.1641G>C
ENST00000636879.1:c.1526G>C	ENSP00000490811.1:p.Gly509Ala
ENST00000636886.1:c.1280G>C	ENSP00000490371.1:p.Gly427Ala
ENST00000637206.1:c.1301G>C	ENSP00000489895.1:p.Gly434Ala
ENST00000637272.1:c.1472G>C	ENSP00000489686.1:p.Gly491Ala
ENST00000637292.1:c.937G>C
ENST00000637782.1:c.1481G>C	ENSP00000490024.1:p.Gly494Ala
ENST00000638008.1:c.*1325G>C	ENSP00000490400.1:n.*1325G>C
ENST00000638010.1:n.1427G>C
XM_011543417.1:c.1076G>C	XP_011541719.1:p.Gly359Ala
XM_011543417.2:c.1076G>C	XP_011541719.1:p.Gly359Ala