Canonical Allele Identifier: CA375683852

Gene: ABO

Linked Data

• dbSNP Id: rs1281390154
• gnomAD v2: 9-136131159-G-A
• gnomAD v4: 9-133255772-G-A
• COSMIC: COSM5998365
• MyVariant Identifiers: chr9:g.136131159G>A (hg19) ; chr9:g.133255772G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255772G>A , CM000671.2:g.133255772G>A	GRCh38
NC_000009.11:g.136131159G>A , CM000671.1:g.136131159G>A	GRCh37
NC_000009.10:g.135120980G>A	NCBI36
NG_006669.1:g.21896C>T
NG_006669.2:g.24444C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.988C>T
ENST00000647353.1:n.54-4620C>T
ENST00000679909.1:c.28+19390C>T	ENSP00000506089.1:n.28+19390C>T
ENST00000453660.3:n.970C>T
ENST00000538324.2:c.956C>T	ENSP00000483018.1:p.Ser319Phe
ENST00000611156.4:c.956C>T	ENSP00000483265.1:p.Ser319Phe
NM_020469.2:c.959C>T	NP_065202.2:p.Ser320Phe
NM_020469.3:c.959C>T	NP_065202.2:p.Ser320Phe