Canonical Allele Identifier: CA375686341

Gene: ABO

Linked Data

• dbSNP Id: rs2118943448
• MyVariant Identifiers: chr9:g.136131670A>G (hg19) ; chr9:g.133256283A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256283A>G , CM000671.2:g.133256283A>G	GRCh38
NC_000009.11:g.136131670A>G , CM000671.1:g.136131670A>G	GRCh37
NC_000009.10:g.135121491A>G	NCBI36
NG_006669.1:g.21385T>C
NG_006669.2:g.23933T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.477T>C
ENST00000647353.1:n.54-5131T>C
ENST00000651471.1:n.403T>C
ENST00000679909.1:c.28+18879T>C	ENSP00000506089.1:n.28+18879T>C
ENST00000453660.3:n.459T>C
ENST00000538324.2:c.445T>C	ENSP00000483018.1:p.Tyr149His
ENST00000611156.4:c.445T>C	ENSP00000483265.1:p.Tyr149His
NM_020469.2:c.448T>C	NP_065202.2:p.Tyr150His
NM_020469.3:c.448T>C	NP_065202.2:p.Tyr150His