Canonical Allele Identifier: CA277292

Gene: ALDH1A3 ALDH1A3-AS1

Linked Data

• ClinVar Variation Id: 212709
• ClinVar RCV Id: RCV000194309
• dbSNP Id: rs797046134
• MyVariant Identifiers: chr15:g.101454953T>C (hg19) ; chr15:g.100914748T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100914748T>C , CM000677.2:g.100914748T>C	GRCh38
NC_000015.9:g.101454953T>C , CM000677.1:g.101454953T>C	GRCh37
NC_000015.8:g.99272476T>C	NCBI36
NG_012254.1:g.39945T>C
NG_052791.1:g.732T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000329841.10:c.1514T>C (ALDH1A3) MANE Select	ENSP00000332256.5:p.Ile505Thr
ENST00000329841.9:c.1514T>C (ALDH1A3)	ENSP00000332256.5:p.Ile505Thr
ENST00000346623.6:c.1193T>C (ALDH1A3)	ENSP00000343294.6:p.Ile398Thr
NM_000693.3:c.1514T>C (ALDH1A3)	NP_000684.2:p.Ile505Thr
NM_001293815.1:c.1193T>C (ALDH1A3)	NP_001280744.1:p.Ile398Thr
NR_135827.1:n.480+4056A>G (ALDH1A3-AS1)
NR_135828.1:n.1713A>G (ALDH1A3-AS1)
NR_135831.1:n.2629A>G (ALDH1A3-AS1)
NM_000693.4:c.1514T>C (ALDH1A3) MANE Select	NP_000684.2:p.Ile505Thr
NM_001293815.2:c.1193T>C (ALDH1A3)	NP_001280744.1:p.Ile398Thr