Canonical Allele Identifier: CA591308934

Gene: ABO

Linked Data

• dbSNP Id: rs1397223254
• gnomAD v2: 9-136132512-G-A
• gnomAD v3: 9-133257125-G-A
• gnomAD v4: 9-133257125-G-A
• MyVariant Identifiers: chr9:g.136132512G>A (hg19) ; chr9:g.133257125G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133257125G>A , CM000671.2:g.133257125G>A	GRCh38
NC_000009.11:g.136132512G>A , CM000671.1:g.136132512G>A	GRCh37
NC_000009.10:g.135122333G>A	NCBI36
NG_006669.1:g.20543C>T
NG_006669.2:g.23091C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.403+284C>T
ENST00000647353.1:n.54-5973C>T
ENST00000651471.1:n.330-769C>T
ENST00000679909.1:c.28+18037C>T	ENSP00000506089.1:n.28+18037C>T
ENST00000453660.3:n.385+284C>T
ENST00000538324.2:c.371+284C>T	ENSP00000483018.1:n.371+284C>T
ENST00000611156.4:c.371+284C>T	ENSP00000483265.1:n.371+284C>T
NM_020469.2:c.374+284C>T	NP_065202.2:n.374+284C>T
NM_020469.3:c.374+284C>T	NP_065202.2:n.374+284C>T