Canonical Allele Identifier: CA360723074

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 646374
• ClinVar RCV Id: RCV000800652
• dbSNP Id: rs1463447902
• gnomAD v2: 5-125887760-C-T
• gnomAD v4: 5-126552068-C-T
• MyVariant Identifiers: chr5:g.125887760C>T (hg19) ; chr5:g.126552068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126552068C>T , CM000667.2:g.126552068C>T	GRCh38
NC_000005.9:g.125887760C>T , CM000667.1:g.125887760C>T	GRCh37
NC_000005.8:g.125915659C>T	NCBI36
NG_008600.2:g.48323G>A
NG_008600.3:g.48323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409134.8:c.1270G>A MANE Select	ENSP00000387123.3:p.Ala424Thr
ENST00000458249.6:c.*1179G>A	ENSP00000403929.1:n.*1179G>A
ENST00000497231.7:n.1697G>A
ENST00000503281.6:c.859G>A
ENST00000635851.1:c.1268G>A
ENST00000636062.1:n.1165G>A
ENST00000636225.1:c.*1214G>A	ENSP00000490797.1:n.*1214G>A
ENST00000636286.1:n.988G>A
ENST00000636482.1:n.757G>A
ENST00000636743.1:c.1150G>A	ENSP00000489725.1:p.Ala384Thr
ENST00000636808.1:c.*1079G>A	ENSP00000490833.1:n.*1079G>A
ENST00000636872.1:c.1430G>A	ENSP00000490919.1:n.1430G>A
ENST00000636879.1:c.1315G>A	ENSP00000490811.1:p.Ala439Thr
ENST00000636886.1:c.1069G>A	ENSP00000490371.1:p.Ala357Thr
ENST00000637206.1:c.1090G>A	ENSP00000489895.1:p.Ala364Thr
ENST00000637272.1:c.1261G>A	ENSP00000489686.1:p.Ala421Thr
ENST00000637292.1:c.774-1775G>A
ENST00000637782.1:c.1270G>A	ENSP00000490024.1:p.Ala424Thr
ENST00000638008.1:c.*1114G>A	ENSP00000490400.1:n.*1114G>A
ENST00000638010.1:n.1216G>A
ENST00000409134.7:c.1270G>A	ENSP00000387123.3:p.Ala424Thr
ENST00000447989.6:c.1159G>A	ENSP00000414132.2:p.Ala387Thr
ENST00000476328.1:n.35G>A
ENST00000497231.6:n.1480G>A
ENST00000503281.5:c.859G>A
ENST00000553117.5:c.1078G>A	ENSP00000448593.1:p.Ala360Thr
NM_001182.4:c.1270G>A	NP_001173.2:p.Ala424Thr
NM_001201377.1:c.1186G>A	NP_001188306.1:p.Ala396Thr
NM_001202404.1:c.1159G>A	NP_001189333.1:p.Ala387Thr
XM_011543417.1:c.865G>A	XP_011541719.1:p.Ala289Thr
XM_011543417.2:c.865G>A	XP_011541719.1:p.Ala289Thr
NM_001182.5:c.1270G>A MANE Select	NP_001173.2:p.Ala424Thr
NM_001201377.2:c.1186G>A	NP_001188306.1:p.Ala396Thr
NM_001202404.2:c.1078G>A	NP_001189333.2:p.Ala360Thr