Canonical Allele Identifier: CA5305796

Gene: ABO

Linked Data

• dbSNP Id: rs8176739
• ExAC: 9:136131523 G / A
• gnomAD v2: 9-136131523-G-A
• gnomAD v3: 9-133256136-G-A
• gnomAD v4: 9-133256136-G-A
• MyVariant Identifiers: chr9:g.136131523G>A (hg19) ; chr9:g.133256136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256136G>A , CM000671.2:g.133256136G>A	GRCh38
NC_000009.11:g.136131523G>A , CM000671.1:g.136131523G>A	GRCh37
NC_000009.10:g.135121344G>A	NCBI36
NG_006669.1:g.21532C>T
NG_006669.2:g.24080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.624C>T
ENST00000647353.1:n.54-4984C>T
ENST00000651471.1:n.550C>T
ENST00000679909.1:c.28+19026C>T	ENSP00000506089.1:n.28+19026C>T
ENST00000453660.3:n.606C>T
ENST00000538324.2:c.592C>T	ENSP00000483018.1:p.Arg198Cys
ENST00000611156.4:c.592C>T	ENSP00000483265.1:p.Arg198Cys
NM_020469.2:c.595C>T	NP_065202.2:p.Arg199Cys
NM_020469.3:c.595C>T	NP_065202.2:p.Arg199Cys