Canonical Allele Identifier: CA375686167

Gene: ABO

Linked Data

• MyVariant Identifiers: chr9:g.136131579C>A (hg19) ; chr9:g.133256192C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256192C>A , CM000671.2:g.133256192C>A	GRCh38
NC_000009.11:g.136131579C>A , CM000671.1:g.136131579C>A	GRCh37
NC_000009.10:g.135121400C>A	NCBI36
NG_006669.1:g.21476G>T
NG_006669.2:g.24024G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.568G>T
ENST00000647353.1:n.54-5040G>T
ENST00000651471.1:n.494G>T
ENST00000679909.1:c.28+18970G>T	ENSP00000506089.1:n.28+18970G>T
ENST00000453660.3:n.550G>T
ENST00000538324.2:c.536G>T	ENSP00000483018.1:p.Arg179Leu
ENST00000611156.4:c.536G>T	ENSP00000483265.1:p.Arg179Leu
NM_020469.2:c.539G>T	NP_065202.2:p.Arg180Leu
NM_020469.3:c.539G>T	NP_065202.2:p.Arg180Leu