Canonical Allele Identifier: CA375686058

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131531C>G (hg19) ; chr9:g.133256144C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256144C>G , CM000671.2:g.133256144C>G	GRCh38
NC_000009.11:g.136131531C>G , CM000671.1:g.136131531C>G	GRCh37
NC_000009.10:g.135121352C>G	NCBI36
NG_006669.1:g.21524G>C
NG_006669.2:g.24072G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.616G>C
ENST00000647353.1:n.54-4992G>C
ENST00000651471.1:n.542G>C
ENST00000679909.1:c.28+19018G>C	ENSP00000506089.1:n.28+19018G>C
ENST00000453660.3:n.598G>C
ENST00000538324.2:c.584G>C	ENSP00000483018.1:p.Cys195Ser
ENST00000611156.4:c.584G>C	ENSP00000483265.1:p.Cys195Ser
NM_020469.2:c.587G>C	NP_065202.2:p.Cys196Ser
NM_020469.3:c.587G>C	NP_065202.2:p.Cys196Ser