Canonical Allele Identifier: CA349197

Gene: ALDH7A1

Linked Data

• ClinVar Variation Id: 220511
• ClinVar RCV Id: RCV000205037
• dbSNP Id: rs864622557
• MyVariant Identifiers: chr5:g.125889986C>A (hg19) ; chr5:g.126554294C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126554294C>A , CM000667.2:g.126554294C>A	GRCh38
NC_000005.9:g.125889986C>A , CM000667.1:g.125889986C>A	GRCh37
NC_000005.8:g.125917885C>A	NCBI36
NG_008600.2:g.46097G>T
NG_008600.3:g.46097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409134.8:c.1193G>T MANE Select	ENSP00000387123.3:p.Gly398Val
ENST00000458249.6:c.*1102G>T	ENSP00000403929.1:n.*1102G>T
ENST00000497231.7:n.1620G>T
ENST00000503281.6:c.782G>T
ENST00000635851.1:c.1191G>T
ENST00000636062.1:n.1088G>T
ENST00000636225.1:c.*1137G>T	ENSP00000490797.1:n.*1137G>T
ENST00000636286.1:n.911G>T
ENST00000636482.1:n.680G>T
ENST00000636743.1:c.1073G>T	ENSP00000489725.1:p.Gly358Val
ENST00000636808.1:c.*1002G>T	ENSP00000490833.1:n.*1002G>T
ENST00000636872.1:c.1353G>T	ENSP00000490919.1:n.1353G>T
ENST00000636879.1:c.1238G>T	ENSP00000490811.1:p.Gly413Val
ENST00000636886.1:c.992G>T	ENSP00000490371.1:p.Gly331Val
ENST00000637206.1:c.1013G>T	ENSP00000489895.1:p.Gly338Val
ENST00000637272.1:c.1184G>T	ENSP00000489686.1:p.Gly395Val
ENST00000637292.1:c.766G>T
ENST00000637782.1:c.1193G>T	ENSP00000490024.1:p.Gly398Val
ENST00000638008.1:c.*1037G>T	ENSP00000490400.1:n.*1037G>T
ENST00000638010.1:n.1139G>T
ENST00000409134.7:c.1193G>T	ENSP00000387123.3:p.Gly398Val
ENST00000447989.6:c.1090-2157G>T	ENSP00000414132.2:n.1090-2157G>T
ENST00000497231.6:n.1403G>T
ENST00000503281.5:c.782G>T
ENST00000553117.5:c.1009-2157G>T	ENSP00000448593.1:n.1009-2157G>T
NM_001182.4:c.1193G>T	NP_001173.2:p.Gly398Val
NM_001201377.1:c.1109G>T	NP_001188306.1:p.Gly370Val
NM_001202404.1:c.1090-2157G>T	NP_001189333.1:n.1090-2157G>T
XM_011543417.1:c.788G>T	XP_011541719.1:p.Gly263Val
XM_011543417.2:c.788G>T	XP_011541719.1:p.Gly263Val
NM_001182.5:c.1193G>T MANE Select	NP_001173.2:p.Gly398Val
NM_001201377.2:c.1109G>T	NP_001188306.1:p.Gly370Val
NM_001202404.2:c.1009-2157G>T	NP_001189333.2:n.1009-2157G>T