Canonical Allele Identifier: CA375686117

Gene: ABO

Linked Data

• dbSNP Id: rs184446112
• gnomAD v2: 9-136131556-G-A
• gnomAD v3: 9-133256169-G-A
• gnomAD v4: 9-133256169-G-A
• MyVariant Identifiers: chr9:g.136131556G>A (hg19) ; chr9:g.133256169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133256169G>A , CM000671.2:g.133256169G>A	GRCh38
NC_000009.11:g.136131556G>A , CM000671.1:g.136131556G>A	GRCh37
NC_000009.10:g.135121377G>A	NCBI36
NG_006669.1:g.21499C>T
NG_006669.2:g.24047C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.591C>T
ENST00000647353.1:n.54-5017C>T
ENST00000651471.1:n.517C>T
ENST00000679909.1:c.28+18993C>T	ENSP00000506089.1:n.28+18993C>T
ENST00000453660.3:n.573C>T
ENST00000538324.2:c.559C>T	ENSP00000483018.1:p.Arg187Cys
ENST00000611156.4:c.559C>T	ENSP00000483265.1:p.Arg187Cys
NM_020469.2:c.562C>T	NP_065202.2:p.Arg188Cys
NM_020469.3:c.562C>T	NP_065202.2:p.Arg188Cys