Canonical Allele Identifier: CA3389373

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 2734771
• ClinVar RCV Id: RCV003518748
• dbSNP Id: rs749231711
• ExAC: 5:125882028 C / G
• gnomAD v2: 5-125882028-C-G
• gnomAD v4: 5-126546336-C-G
• MyVariant Identifiers: chr5:g.125882028C>G (hg19) ; chr5:g.126546336C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126546336C>G , CM000667.2:g.126546336C>G	GRCh38
NC_000005.9:g.125882028C>G , CM000667.1:g.125882028C>G	GRCh37
NC_000005.8:g.125909927C>G	NCBI36
NG_008600.2:g.54055G>C
NG_008600.3:g.54055G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1553G>C MANE Select	ENSP00000387123.3:p.Arg518Thr
ENST00000458249.6:c.*1462G>C	ENSP00000403929.1:n.*1462G>C
ENST00000485852.7:n.300G>C
ENST00000497231.7:n.1980G>C
ENST00000635851.1:c.1551G>C
ENST00000636286.1:n.1318G>C
ENST00000636482.1:n.1087G>C
ENST00000636743.1:c.1433G>C	ENSP00000489725.1:p.Arg478Thr
ENST00000636808.1:c.*1362G>C	ENSP00000490833.1:n.*1362G>C
ENST00000636872.1:c.1713G>C	ENSP00000490919.1:n.1713G>C
ENST00000636879.1:c.1598G>C	ENSP00000490811.1:p.Arg533Thr
ENST00000636886.1:c.1352G>C	ENSP00000490371.1:p.Arg451Thr
ENST00000637206.1:c.1373G>C	ENSP00000489895.1:p.Arg458Thr
ENST00000637272.1:c.1544G>C	ENSP00000489686.1:p.Arg515Thr
ENST00000637292.1:c.1009G>C
ENST00000637782.1:c.1553G>C	ENSP00000490024.1:p.Arg518Thr
ENST00000638008.1:c.*1397G>C	ENSP00000490400.1:n.*1397G>C
ENST00000638010.1:n.1499G>C
ENST00000409134.7:c.1553G>C	ENSP00000387123.3:p.Arg518Thr
ENST00000447989.6:c.1442G>C	ENSP00000414132.2:p.Arg481Thr
ENST00000485852.6:n.300G>C
ENST00000497231.6:n.1763G>C
ENST00000553117.5:c.1361G>C	ENSP00000448593.1:p.Arg454Thr
NM_001182.4:c.1553G>C	NP_001173.2:p.Arg518Thr
NM_001201377.1:c.1469G>C	NP_001188306.1:p.Arg490Thr
NM_001202404.1:c.1442G>C	NP_001189333.1:p.Arg481Thr
XM_011543417.1:c.1148G>C	XP_011541719.1:p.Arg383Thr
XM_011543417.2:c.1148G>C	XP_011541719.1:p.Arg383Thr
NM_001182.5:c.1553G>C MANE Select	NP_001173.2:p.Arg518Thr
NM_001201377.2:c.1469G>C	NP_001188306.1:p.Arg490Thr
NM_001202404.2:c.1361G>C	NP_001189333.2:p.Arg454Thr