Canonical Allele Identifier: CA392790149

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs1297458757
• gnomAD v2: 15-58302910-T-C
• MyVariant Identifiers: chr15:g.58302910T>C (hg19) ; chr15:g.58010712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010712T>C , CM000677.2:g.58010712T>C	GRCh38
NC_000015.9:g.58302910T>C , CM000677.1:g.58302910T>C	GRCh37
NC_000015.8:g.56090202T>C	NCBI36
NG_012259.1:g.59997A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249750.9:c.430A>G MANE Select	ENSP00000249750.4:p.Ile144Val
ENST00000249750.8:c.430A>G	ENSP00000249750.4:p.Ile144Val
ENST00000347587.7:c.430A>G	ENSP00000309623.3:p.Ile144Val
ENST00000430119.6:c.*404A>G	ENSP00000416754.2:n.*404A>G
ENST00000537372.5:c.367A>G	ENSP00000438296.1:p.Ile123Val
ENST00000558231.5:c.343A>G	ENSP00000453600.1:p.Ile115Val
ENST00000559266.5:n.318+3146A>G
ENST00000559517.5:c.142A>G	ENSP00000453408.1:p.Ile48Val
ENST00000561070.5:c.142A>G	ENSP00000452850.1:p.Ile48Val
NM_001206897.1:c.367A>G	NP_001193826.1:p.Ile123Val
NM_003888.3:c.430A>G	NP_003879.2:p.Ile144Val
NM_170696.2:c.430A>G	NP_733797.1:p.Ile144Val
NM_170697.2:c.142A>G	NP_733798.1:p.Ile48Val
XM_024450095.1:c.430A>G	XP_024305863.1:p.Ile144Val
NM_003888.4:c.430A>G MANE Select	NP_003879.2:p.Ile144Val
NM_170696.3:c.430A>G	NP_733797.1:p.Ile144Val
NM_170697.3:c.142A>G	NP_733798.1:p.Ile48Val
NM_001206897.2:c.367A>G	NP_001193826.1:p.Ile123Val