Canonical Allele Identifier: CA375686348

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131673A>C (hg19) ; chr9:g.133256286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256286A>C , CM000671.2:g.133256286A>C	GRCh38
NC_000009.11:g.136131673A>C , CM000671.1:g.136131673A>C	GRCh37
NC_000009.10:g.135121494A>C	NCBI36
NG_006669.1:g.21382T>G
NG_006669.2:g.23930T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.474T>G
ENST00000647353.1:n.54-5134T>G
ENST00000651471.1:n.400T>G
ENST00000679909.1:c.28+18876T>G	ENSP00000506089.1:n.28+18876T>G
ENST00000453660.3:n.456T>G
ENST00000538324.2:c.442T>G	ENSP00000483018.1:p.Tyr148Asp
ENST00000611156.4:c.442T>G	ENSP00000483265.1:p.Tyr148Asp
NM_020469.2:c.445T>G	NP_065202.2:p.Tyr149Asp
NM_020469.3:c.445T>G	NP_065202.2:p.Tyr149Asp