Canonical Allele Identifier: CA7584092

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs201593015
• ExAC: 15:58302897 C / T
• gnomAD v2: 15-58302897-C-T
• gnomAD v3: 15-58010699-C-T
• gnomAD v4: 15-58010699-C-T
• COSMIC: COSM963320
• MyVariant Identifiers: chr15:g.58302897C>T (hg19) ; chr15:g.58010699C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010699C>T , CM000677.2:g.58010699C>T	GRCh38
NC_000015.9:g.58302897C>T , CM000677.1:g.58302897C>T	GRCh37
NC_000015.8:g.56090189C>T	NCBI36
NG_012259.1:g.60010G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249750.9:c.443G>A MANE Select	ENSP00000249750.4:p.Arg148Gln
ENST00000249750.8:c.443G>A	ENSP00000249750.4:p.Arg148Gln
ENST00000347587.7:c.443G>A	ENSP00000309623.3:p.Arg148Gln
ENST00000430119.6:c.*417G>A	ENSP00000416754.2:n.*417G>A
ENST00000537372.5:c.380G>A	ENSP00000438296.1:p.Arg127Gln
ENST00000558231.5:c.356G>A	ENSP00000453600.1:p.Arg119Gln
ENST00000559266.5:n.318+3159G>A
ENST00000559517.5:c.155G>A	ENSP00000453408.1:p.Arg52Gln
ENST00000561070.5:c.155G>A	ENSP00000452850.1:p.Arg52Gln
NM_001206897.1:c.380G>A	NP_001193826.1:p.Arg127Gln
NM_003888.3:c.443G>A	NP_003879.2:p.Arg148Gln
NM_170696.2:c.443G>A	NP_733797.1:p.Arg148Gln
NM_170697.2:c.155G>A	NP_733798.1:p.Arg52Gln
XM_024450095.1:c.443G>A	XP_024305863.1:p.Arg148Gln
NM_003888.4:c.443G>A MANE Select	NP_003879.2:p.Arg148Gln
NM_170696.3:c.443G>A	NP_733797.1:p.Arg148Gln
NM_170697.3:c.155G>A	NP_733798.1:p.Arg52Gln
NM_001206897.2:c.380G>A	NP_001193826.1:p.Arg127Gln