Canonical Allele Identifier: CA467780159

Gene: ABO

Linked Data

• dbSNP Id: rs187099314
• gnomAD v4: 9-133255354-C-G
• MyVariant Identifiers: chr9:g.136130741C>G (hg19) ; chr9:g.133255354C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255354C>G , CM000671.2:g.133255354C>G	GRCh38
NC_000009.11:g.136130741C>G , CM000671.1:g.136130741C>G	GRCh37
NC_000009.10:g.135120562C>G	NCBI36
NG_006669.1:g.22314G>C
NG_006669.2:g.24862G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1406G>C
ENST00000647353.1:n.54-4202G>C
ENST00000679909.1:c.28+19808G>C	ENSP00000506089.1:n.28+19808G>C
ENST00000453660.3:n.1388G>C
ENST00000611156.4:c.*312G>C	ENSP00000483265.1:n.*312G>C
NM_020469.2:c.*312G>C	NP_065202.2:n.*312G>C
NM_020469.3:c.*312G>C	NP_065202.2:n.*312G>C