Canonical Allele Identifier: CA375686890

Gene: ABO

Linked Data

• gnomAD v4: 9-133258132-C-G
• MyVariant Identifiers: chr9:g.136133522C>G (hg19) ; chr9:g.133258132C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258132C>G , CM000671.2:g.133258132C>G	GRCh38
NC_000009.11:g.136133522C>G , CM000671.1:g.136133522C>G	GRCh37
NC_000009.10:g.135123343C>G	NCBI36
NG_006669.1:g.19532G>C
NG_006669.2:g.22083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.234G>C
ENST00000647353.1:n.54-6980G>C
ENST00000651471.1:n.239G>C
ENST00000679909.1:c.28+17030G>C	ENSP00000506089.1:n.28+17030G>C
ENST00000453660.3:n.216G>C
ENST00000538324.2:c.204G>C	ENSP00000483018.1:p.Arg68Ser
ENST00000611156.4:c.204G>C	ENSP00000483265.1:p.Arg68Ser
NM_020469.2:c.204G>C	NP_065202.2:p.Arg68Ser
NM_020469.3:c.204G>C	NP_065202.2:p.Arg68Ser