Canonical Allele Identifier: CA5305658

Gene: ABO

Linked Data

• dbSNP Id: rs782519173
• ExAC: 9:136131095 G / A
• gnomAD v2: 9-136131095-G-A
• gnomAD v4: 9-133255708-G-A
• MyVariant Identifiers: chr9:g.136131095G>A (hg19) ; chr9:g.133255708G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255708G>A , CM000671.2:g.133255708G>A	GRCh38
NC_000009.11:g.136131095G>A , CM000671.1:g.136131095G>A	GRCh37
NC_000009.10:g.135120916G>A	NCBI36
NG_006669.1:g.21960C>T
NG_006669.2:g.24508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1052C>T
ENST00000647353.1:n.54-4556C>T
ENST00000679909.1:c.28+19454C>T	ENSP00000506089.1:n.28+19454C>T
ENST00000453660.3:n.1034C>T
ENST00000538324.2:c.1020C>T	ENSP00000483018.1:p.Phe340=
ENST00000611156.4:c.1020C>T	ENSP00000483265.1:p.Phe340=
NM_020469.2:c.1023C>T	NP_065202.2:p.Phe341=
NM_020469.3:c.1023C>T	NP_065202.2:p.Phe341=