Canonical Allele Identifier: CA467783008

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131728C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256341C>G , CM000671.2:g.133256341C>G	GRCh38
NC_000009.11:g.136131728C>G , CM000671.1:g.136131728C>G	GRCh37
NC_000009.10:g.135121549C>G	NCBI36
NG_006669.1:g.21327G>C
NG_006669.2:g.23875G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.419G>C
ENST00000647353.1:n.54-5189G>C
ENST00000651471.1:n.345G>C
ENST00000679909.1:c.28+18821G>C	ENSP00000506089.1:n.28+18821G>C
ENST00000453660.3:n.401G>C
ENST00000538324.2:c.387G>C	ENSP00000483018.1:p.Leu129=
ENST00000611156.4:c.387G>C	ENSP00000483265.1:p.Leu129=
NM_020469.2:c.390G>C	NP_065202.2:p.Leu130=
NM_020469.3:c.390G>C	NP_065202.2:p.Leu130=