Canonical Allele Identifier: CA360719076

Gene: ALDH7A1

Linked Data

• gnomAD v4: 5-126546354-G-C
• MyVariant Identifiers: chr5:g.125882046G>C (hg19) ; chr5:g.126546354G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546354G>C , CM000667.2:g.126546354G>C	GRCh38
NC_000005.9:g.125882046G>C , CM000667.1:g.125882046G>C	GRCh37
NC_000005.8:g.125909945G>C	NCBI36
NG_008600.2:g.54037C>G
NG_008600.3:g.54037C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1535C>G MANE Select	ENSP00000387123.3:p.Ala512Gly
ENST00000458249.6:c.*1444C>G	ENSP00000403929.1:n.*1444C>G
ENST00000485852.7:n.282C>G
ENST00000497231.7:n.1962C>G
ENST00000635851.1:c.1533C>G
ENST00000636225.1:c.*1479C>G	ENSP00000490797.1:n.*1479C>G
ENST00000636286.1:n.1300C>G
ENST00000636482.1:n.1069C>G
ENST00000636743.1:c.1415C>G	ENSP00000489725.1:p.Ala472Gly
ENST00000636808.1:c.*1344C>G	ENSP00000490833.1:n.*1344C>G
ENST00000636872.1:c.1695C>G	ENSP00000490919.1:n.1695C>G
ENST00000636879.1:c.1580C>G	ENSP00000490811.1:p.Ala527Gly
ENST00000636886.1:c.1334C>G	ENSP00000490371.1:p.Ala445Gly
ENST00000637206.1:c.1355C>G	ENSP00000489895.1:p.Ala452Gly
ENST00000637272.1:c.1526C>G	ENSP00000489686.1:p.Ala509Gly
ENST00000637292.1:c.991C>G
ENST00000637782.1:c.1535C>G	ENSP00000490024.1:p.Ala512Gly
ENST00000638008.1:c.*1379C>G	ENSP00000490400.1:n.*1379C>G
ENST00000638010.1:n.1481C>G
ENST00000409134.7:c.1535C>G	ENSP00000387123.3:p.Ala512Gly
ENST00000447989.6:c.1424C>G	ENSP00000414132.2:p.Ala475Gly
ENST00000485852.6:n.282C>G
ENST00000497231.6:n.1745C>G
ENST00000553117.5:c.1343C>G	ENSP00000448593.1:p.Ala448Gly
NM_001182.4:c.1535C>G	NP_001173.2:p.Ala512Gly
NM_001201377.1:c.1451C>G	NP_001188306.1:p.Ala484Gly
NM_001202404.1:c.1424C>G	NP_001189333.1:p.Ala475Gly
XM_011543417.1:c.1130C>G	XP_011541719.1:p.Ala377Gly
XM_011543417.2:c.1130C>G	XP_011541719.1:p.Ala377Gly
NM_001182.5:c.1535C>G MANE Select	NP_001173.2:p.Ala512Gly
NM_001201377.2:c.1451C>G	NP_001188306.1:p.Ala484Gly
NM_001202404.2:c.1343C>G	NP_001189333.2:p.Ala448Gly