Canonical Allele Identifier: CA375685335

Gene: ABO

Linked Data

• dbSNP Id: rs1256017060
• gnomAD v2: 9-136131390-G-A
• MyVariant Identifiers: chr9:g.136131390G>A (hg19) ; chr9:g.133256003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256003G>A , CM000671.2:g.133256003G>A	GRCh38
NC_000009.11:g.136131390G>A , CM000671.1:g.136131390G>A	GRCh37
NC_000009.10:g.135121211G>A	NCBI36
NG_006669.1:g.21665C>T
NG_006669.2:g.24213C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.757C>T
ENST00000647353.1:n.54-4851C>T
ENST00000679909.1:c.28+19159C>T	ENSP00000506089.1:n.28+19159C>T
ENST00000453660.3:n.739C>T
ENST00000538324.2:c.725C>T	ENSP00000483018.1:p.Ala242Val
ENST00000611156.4:c.725C>T	ENSP00000483265.1:p.Ala242Val
NM_020469.2:c.728C>T	NP_065202.2:p.Ala243Val
NM_020469.3:c.728C>T	NP_065202.2:p.Ala243Val