Canonical Allele Identifier: CA446280197

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 905670
• ClinVar RCV Id: RCV001154336
• dbSNP Id: rs1749785160
• gnomAD v4: 5-126546335-T-C
• MyVariant Identifiers: chr5:g.125882027T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546335T>C , CM000667.2:g.126546335T>C	GRCh38
NC_000005.9:g.125882027T>C , CM000667.1:g.125882027T>C	GRCh37
NC_000005.8:g.125909926T>C	NCBI36
NG_008600.2:g.54056A>G
NG_008600.3:g.54056A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1554A>G MANE Select	ENSP00000387123.3:p.Arg518=
ENST00000458249.6:c.*1463A>G	ENSP00000403929.1:n.*1463A>G
ENST00000485852.7:n.301A>G
ENST00000497231.7:n.1981A>G
ENST00000635851.1:c.1552A>G
ENST00000636286.1:n.1319A>G
ENST00000636482.1:n.1088A>G
ENST00000636743.1:c.1434A>G	ENSP00000489725.1:p.Arg478=
ENST00000636808.1:c.*1363A>G	ENSP00000490833.1:n.*1363A>G
ENST00000636872.1:c.1714A>G	ENSP00000490919.1:n.1714A>G
ENST00000636879.1:c.1599A>G	ENSP00000490811.1:p.Arg533=
ENST00000636886.1:c.1353A>G	ENSP00000490371.1:p.Arg451=
ENST00000637206.1:c.1374A>G	ENSP00000489895.1:p.Arg458=
ENST00000637272.1:c.1545A>G	ENSP00000489686.1:p.Arg515=
ENST00000637292.1:c.1010A>G
ENST00000637782.1:c.1554A>G	ENSP00000490024.1:p.Arg518=
ENST00000638008.1:c.*1398A>G	ENSP00000490400.1:n.*1398A>G
ENST00000638010.1:n.1500A>G
ENST00000409134.7:c.1554A>G	ENSP00000387123.3:p.Arg518=
ENST00000447989.6:c.1443A>G	ENSP00000414132.2:p.Arg481=
ENST00000485852.6:n.301A>G
ENST00000497231.6:n.1764A>G
ENST00000553117.5:c.1362A>G	ENSP00000448593.1:p.Arg454=
NM_001182.4:c.1554A>G	NP_001173.2:p.Arg518=
NM_001201377.1:c.1470A>G	NP_001188306.1:p.Arg490=
NM_001202404.1:c.1443A>G	NP_001189333.1:p.Arg481=
XM_011543417.1:c.1149A>G	XP_011541719.1:p.Arg383=
XM_011543417.2:c.1149A>G	XP_011541719.1:p.Arg383=
NM_001182.5:c.1554A>G MANE Select	NP_001173.2:p.Arg518=
NM_001201377.2:c.1470A>G	NP_001188306.1:p.Arg490=
NM_001202404.2:c.1362A>G	NP_001189333.2:p.Arg454=