Canonical Allele Identifier: CA7760017

Gene: ALDH1A3

Linked Data

• dbSNP Id: rs765699112
• ExAC: 15:101427785 G / T
• gnomAD v2: 15-101427785-G-T
• gnomAD v4: 15-100887580-G-T
• MyVariant Identifiers: chr15:g.101427785G>T (hg19) ; chr15:g.100887580G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100887580G>T , CM000677.2:g.100887580G>T	GRCh38
NC_000015.9:g.101427785G>T , CM000677.1:g.101427785G>T	GRCh37
NC_000015.8:g.99245308G>T	NCBI36
NG_012254.1:g.12777G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329841.10:c.213G>T MANE Select	ENSP00000332256.5:p.Val71=
ENST00000329841.9:c.213G>T	ENSP00000332256.5:p.Val71=
ENST00000346623.6:c.213G>T	ENSP00000343294.6:p.Val71=
ENST00000558033.5:c.213G>T	ENSP00000454107.1:p.Val71=
ENST00000560555.1:n.273G>T
ENST00000561338.5:c.129G>T	ENSP00000452789.1:p.Val43=
NM_000693.3:c.213G>T	NP_000684.2:p.Val71=
NM_001293815.1:c.213G>T	NP_001280744.1:p.Val71=
NM_000693.4:c.213G>T MANE Select	NP_000684.2:p.Val71=
NM_001293815.2:c.213G>T	NP_001280744.1:p.Val71=