Canonical Allele Identifier: CA375686438

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131712T>G (hg19) ; chr9:g.133256325T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256325T>G , CM000671.2:g.133256325T>G	GRCh38
NC_000009.11:g.136131712T>G , CM000671.1:g.136131712T>G	GRCh37
NC_000009.10:g.135121533T>G	NCBI36
NG_006669.1:g.21343A>C
NG_006669.2:g.23891A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.435A>C
ENST00000647353.1:n.54-5173A>C
ENST00000651471.1:n.361A>C
ENST00000679909.1:c.28+18837A>C	ENSP00000506089.1:n.28+18837A>C
ENST00000453660.3:n.417A>C
ENST00000538324.2:c.403A>C	ENSP00000483018.1:p.Thr135Pro
ENST00000611156.4:c.403A>C	ENSP00000483265.1:p.Thr135Pro
NM_020469.2:c.406A>C	NP_065202.2:p.Thr136Pro
NM_020469.3:c.406A>C	NP_065202.2:p.Thr136Pro