Canonical Allele Identifier: CA130785

Gene: ALDH1A3 ALDH1A3-AS1

Linked Data

• ClinVar Variation Id: 40205
• ClinVar RCV Id: RCV000033223
• dbSNP Id: rs78931658
• gnomAD v2: 15-101432845-G-T
• gnomAD v4: 15-100892640-G-T
• MyVariant Identifiers: chr15:g.101432845G>T (hg19) ; chr15:g.100892640G>T (hg38)
• PubMed: PMID:23312594

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100892640G>T , CM000677.2:g.100892640G>T	GRCh38
NC_000015.9:g.101432845G>T , CM000677.1:g.101432845G>T	GRCh37
NC_000015.8:g.99250368G>T	NCBI36
NG_012254.1:g.17837G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000329841.10:c.475+1G>T (ALDH1A3) MANE Select	ENSP00000332256.5:n.475+1G>T
ENST00000329841.9:c.475+1G>T (ALDH1A3)	ENSP00000332256.5:n.475+1G>T
ENST00000346623.6:c.346-3293G>T (ALDH1A3)	ENSP00000343294.6:n.346-3293G>T
ENST00000558033.5:c.346-305G>T (ALDH1A3)	ENSP00000454107.1:n.346-305G>T
ENST00000561338.5:c.391+1G>T (ALDH1A3)	ENSP00000452789.1:n.391+1G>T
NM_000693.3:c.475+1G>T (ALDH1A3)	NP_000684.2:n.475+1G>T
NM_001293815.1:c.346-3293G>T (ALDH1A3)	NP_001280744.1:n.346-3293G>T
NR_135827.1:n.3907C>A (ALDH1A3-AS1)
NM_000693.4:c.475+1G>T (ALDH1A3) MANE Select	NP_000684.2:n.475+1G>T
NM_001293815.2:c.346-3293G>T (ALDH1A3)	NP_001280744.1:n.346-3293G>T