Canonical Allele Identifier: CA392790115

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs1369606280
• gnomAD v2: 15-58302903-G-A
• MyVariant Identifiers: chr15:g.58302903G>A (hg19) ; chr15:g.58010705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010705G>A , CM000677.2:g.58010705G>A	GRCh38
NC_000015.9:g.58302903G>A , CM000677.1:g.58302903G>A	GRCh37
NC_000015.8:g.56090195G>A	NCBI36
NG_012259.1:g.60004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249750.9:c.437C>T MANE Select	ENSP00000249750.4:p.Thr146Ile
ENST00000249750.8:c.437C>T	ENSP00000249750.4:p.Thr146Ile
ENST00000347587.7:c.437C>T	ENSP00000309623.3:p.Thr146Ile
ENST00000430119.6:c.*411C>T	ENSP00000416754.2:n.*411C>T
ENST00000537372.5:c.374C>T	ENSP00000438296.1:p.Thr125Ile
ENST00000558231.5:c.350C>T	ENSP00000453600.1:p.Thr117Ile
ENST00000559266.5:n.318+3153C>T
ENST00000559517.5:c.149C>T	ENSP00000453408.1:p.Thr50Ile
ENST00000561070.5:c.149C>T	ENSP00000452850.1:p.Thr50Ile
NM_001206897.1:c.374C>T	NP_001193826.1:p.Thr125Ile
NM_003888.3:c.437C>T	NP_003879.2:p.Thr146Ile
NM_170696.2:c.437C>T	NP_733797.1:p.Thr146Ile
NM_170697.2:c.149C>T	NP_733798.1:p.Thr50Ile
XM_024450095.1:c.437C>T	XP_024305863.1:p.Thr146Ile
NM_003888.4:c.437C>T MANE Select	NP_003879.2:p.Thr146Ile
NM_170696.3:c.437C>T	NP_733797.1:p.Thr146Ile
NM_170697.3:c.149C>T	NP_733798.1:p.Thr50Ile
NM_001206897.2:c.374C>T	NP_001193826.1:p.Thr125Ile