Canonical Allele Identifier: CA392790148

Gene: ALDH1A2

Linked Data

• MyVariant Identifiers: chr15:g.58302910T>A (hg19) ; chr15:g.58010712T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249750.9:c.430A>T MANE Select	ENSP00000249750.4:p.Ile144Phe
ENST00000249750.8:c.430A>T	ENSP00000249750.4:p.Ile144Phe
ENST00000347587.7:c.430A>T	ENSP00000309623.3:p.Ile144Phe
ENST00000430119.6:c.*404A>T	ENSP00000416754.2:n.*404A>T
ENST00000537372.5:c.367A>T	ENSP00000438296.1:p.Ile123Phe
ENST00000558231.5:c.343A>T	ENSP00000453600.1:p.Ile115Phe
ENST00000559266.5:n.318+3146A>T
ENST00000559517.5:c.142A>T	ENSP00000453408.1:p.Ile48Phe
ENST00000561070.5:c.142A>T	ENSP00000452850.1:p.Ile48Phe
NM_001206897.1:c.367A>T	NP_001193826.1:p.Ile123Phe
NM_003888.3:c.430A>T	NP_003879.2:p.Ile144Phe
NM_170696.2:c.430A>T	NP_733797.1:p.Ile144Phe
NM_170697.2:c.142A>T	NP_733798.1:p.Ile48Phe
XM_024450095.1:c.430A>T	XP_024305863.1:p.Ile144Phe
NM_003888.4:c.430A>T MANE Select	NP_003879.2:p.Ile144Phe
NM_170696.3:c.430A>T	NP_733797.1:p.Ile144Phe
NM_170697.3:c.142A>T	NP_733798.1:p.Ile48Phe
NM_001206897.2:c.367A>T	NP_001193826.1:p.Ile123Phe