Canonical Allele Identifier: CA446280207

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2782587
• ClinVar RCV Id: RCV003631394
• dbSNP Id: rs1749786508
• gnomAD v3: 5-126546362-G-C
• gnomAD v4: 5-126546362-G-C
• MyVariant Identifiers: chr5:g.125882054G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546362G>C , CM000667.2:g.126546362G>C	GRCh38
NC_000005.9:g.125882054G>C , CM000667.1:g.125882054G>C	GRCh37
NC_000005.8:g.125909953G>C	NCBI36
NG_008600.2:g.54029C>G
NG_008600.3:g.54029C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1527C>G MANE Select	ENSP00000387123.3:p.Gly509=
ENST00000458249.6:c.*1436C>G	ENSP00000403929.1:n.*1436C>G
ENST00000485852.7:n.274C>G
ENST00000497231.7:n.1954C>G
ENST00000635851.1:c.1525C>G
ENST00000636225.1:c.*1471C>G	ENSP00000490797.1:n.*1471C>G
ENST00000636286.1:n.1292C>G
ENST00000636482.1:n.1061C>G
ENST00000636743.1:c.1407C>G	ENSP00000489725.1:p.Gly469=
ENST00000636808.1:c.*1336C>G	ENSP00000490833.1:n.*1336C>G
ENST00000636872.1:c.1687C>G	ENSP00000490919.1:n.1687C>G
ENST00000636879.1:c.1572C>G	ENSP00000490811.1:p.Gly524=
ENST00000636886.1:c.1326C>G	ENSP00000490371.1:p.Gly442=
ENST00000637206.1:c.1347C>G	ENSP00000489895.1:p.Gly449=
ENST00000637272.1:c.1518C>G	ENSP00000489686.1:p.Gly506=
ENST00000637292.1:c.983C>G
ENST00000637782.1:c.1527C>G	ENSP00000490024.1:p.Gly509=
ENST00000638008.1:c.*1371C>G	ENSP00000490400.1:n.*1371C>G
ENST00000638010.1:n.1473C>G
ENST00000409134.7:c.1527C>G	ENSP00000387123.3:p.Gly509=
ENST00000447989.6:c.1416C>G	ENSP00000414132.2:p.Gly472=
ENST00000485852.6:n.274C>G
ENST00000497231.6:n.1737C>G
ENST00000553117.5:c.1335C>G	ENSP00000448593.1:p.Gly445=
NM_001182.4:c.1527C>G	NP_001173.2:p.Gly509=
NM_001201377.1:c.1443C>G	NP_001188306.1:p.Gly481=
NM_001202404.1:c.1416C>G	NP_001189333.1:p.Gly472=
XM_011543417.1:c.1122C>G	XP_011541719.1:p.Gly374=
XM_011543417.2:c.1122C>G	XP_011541719.1:p.Gly374=
NM_001182.5:c.1527C>G MANE Select	NP_001173.2:p.Gly509=
NM_001201377.2:c.1443C>G	NP_001188306.1:p.Gly481=
NM_001202404.2:c.1335C>G	NP_001189333.2:p.Gly445=