Canonical Allele Identifier: CA618390955

Gene: ALDH1A2

Linked Data

• dbSNP Id: rs140075793
• gnomAD v2: 15-58302793-C-A
• gnomAD v3: 15-58010595-C-A
• gnomAD v4: 15-58010595-C-A
• MyVariant Identifiers: chr15:g.58302793C>A (hg19) ; chr15:g.58010595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58010595C>A , CM000677.2:g.58010595C>A	GRCh38
NC_000015.9:g.58302793C>A , CM000677.1:g.58302793C>A	GRCh37
NC_000015.8:g.56090085C>A	NCBI36
NG_012259.1:g.60114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249750.9:c.493+54G>T MANE Select	ENSP00000249750.4:n.493+54G>T
ENST00000249750.8:c.493+54G>T	ENSP00000249750.4:n.493+54G>T
ENST00000347587.7:c.493+54G>T	ENSP00000309623.3:n.493+54G>T
ENST00000430119.6:c.*467+54G>T	ENSP00000416754.2:n.*467+54G>T
ENST00000537372.5:c.430+54G>T	ENSP00000438296.1:n.430+54G>T
ENST00000558231.5:c.406+54G>T	ENSP00000453600.1:n.406+54G>T
ENST00000559266.5:n.318+3263G>T
ENST00000559517.5:c.205+54G>T	ENSP00000453408.1:n.205+54G>T
ENST00000561070.5:c.205+54G>T	ENSP00000452850.1:n.205+54G>T
NM_001206897.1:c.430+54G>T	NP_001193826.1:n.430+54G>T
NM_003888.3:c.493+54G>T	NP_003879.2:n.493+54G>T
NM_170696.2:c.493+54G>T	NP_733797.1:n.493+54G>T
NM_170697.2:c.205+54G>T	NP_733798.1:n.205+54G>T
XM_024450095.1:c.493+54G>T	XP_024305863.1:n.493+54G>T
NM_003888.4:c.493+54G>T MANE Select	NP_003879.2:n.493+54G>T
NM_170696.3:c.493+54G>T	NP_733797.1:n.493+54G>T
NM_170697.3:c.205+54G>T	NP_733798.1:n.205+54G>T
NM_001206897.2:c.430+54G>T	NP_001193826.1:n.430+54G>T