Canonical Allele Identifier: CA375686164

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131577A>G (hg19) ; chr9:g.133256190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256190A>G , CM000671.2:g.133256190A>G	GRCh38
NC_000009.11:g.136131577A>G , CM000671.1:g.136131577A>G	GRCh37
NC_000009.10:g.135121398A>G	NCBI36
NG_006669.1:g.21478T>C
NG_006669.2:g.24026T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.570T>C
ENST00000647353.1:n.54-5038T>C
ENST00000651471.1:n.496T>C
ENST00000679909.1:c.28+18972T>C	ENSP00000506089.1:n.28+18972T>C
ENST00000453660.3:n.552T>C
ENST00000538324.2:c.538T>C	ENSP00000483018.1:p.Trp180Arg
ENST00000611156.4:c.538T>C	ENSP00000483265.1:p.Trp180Arg
NM_020469.2:c.541T>C	NP_065202.2:p.Trp181Arg
NM_020469.3:c.541T>C	NP_065202.2:p.Trp181Arg