Canonical Allele Identifier: CA360719188

Gene: ALDH7A1

Linked Data

• MyVariant Identifiers: chr5:g.125882055C>T (hg19) ; chr5:g.126546363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546363C>T , CM000667.2:g.126546363C>T	GRCh38
NC_000005.9:g.125882055C>T , CM000667.1:g.125882055C>T	GRCh37
NC_000005.8:g.125909954C>T	NCBI36
NG_008600.2:g.54028G>A
NG_008600.3:g.54028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1526G>A MANE Select	ENSP00000387123.3:p.Gly509Asp
ENST00000458249.6:c.*1435G>A	ENSP00000403929.1:n.*1435G>A
ENST00000485852.7:n.273G>A
ENST00000497231.7:n.1953G>A
ENST00000635851.1:c.1524G>A
ENST00000636225.1:c.*1470G>A	ENSP00000490797.1:n.*1470G>A
ENST00000636286.1:n.1291G>A
ENST00000636482.1:n.1060G>A
ENST00000636743.1:c.1406G>A	ENSP00000489725.1:p.Gly469Asp
ENST00000636808.1:c.*1335G>A	ENSP00000490833.1:n.*1335G>A
ENST00000636872.1:c.1686G>A	ENSP00000490919.1:n.1686G>A
ENST00000636879.1:c.1571G>A	ENSP00000490811.1:p.Gly524Asp
ENST00000636886.1:c.1325G>A	ENSP00000490371.1:p.Gly442Asp
ENST00000637206.1:c.1346G>A	ENSP00000489895.1:p.Gly449Asp
ENST00000637272.1:c.1517G>A	ENSP00000489686.1:p.Gly506Asp
ENST00000637292.1:c.982G>A
ENST00000637782.1:c.1526G>A	ENSP00000490024.1:p.Gly509Asp
ENST00000638008.1:c.*1370G>A	ENSP00000490400.1:n.*1370G>A
ENST00000638010.1:n.1472G>A
ENST00000409134.7:c.1526G>A	ENSP00000387123.3:p.Gly509Asp
ENST00000447989.6:c.1415G>A	ENSP00000414132.2:p.Gly472Asp
ENST00000485852.6:n.273G>A
ENST00000497231.6:n.1736G>A
ENST00000553117.5:c.1334G>A	ENSP00000448593.1:p.Gly445Asp
NM_001182.4:c.1526G>A	NP_001173.2:p.Gly509Asp
NM_001201377.1:c.1442G>A	NP_001188306.1:p.Gly481Asp
NM_001202404.1:c.1415G>A	NP_001189333.1:p.Gly472Asp
XM_011543417.1:c.1121G>A	XP_011541719.1:p.Gly374Asp
XM_011543417.2:c.1121G>A	XP_011541719.1:p.Gly374Asp
NM_001182.5:c.1526G>A MANE Select	NP_001173.2:p.Gly509Asp
NM_001201377.2:c.1442G>A	NP_001188306.1:p.Gly481Asp
NM_001202404.2:c.1334G>A	NP_001189333.2:p.Gly445Asp