Canonical Allele Identifier: CA200765328

Gene: ABO

Linked Data

• dbSNP Id: rs928305857
• gnomAD v2: 9-136131376-G-A
• gnomAD v3: 9-133255989-G-A
• gnomAD v4: 9-133255989-G-A
• MyVariant Identifiers: chr9:g.136131376G>A (hg19) ; chr9:g.133255989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255989G>A , CM000671.2:g.133255989G>A	GRCh38
NC_000009.11:g.136131376G>A , CM000671.1:g.136131376G>A	GRCh37
NC_000009.10:g.135121197G>A	NCBI36
NG_006669.1:g.21679C>T
NG_006669.2:g.24227C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.771C>T
ENST00000647353.1:n.54-4837C>T
ENST00000679909.1:c.28+19173C>T	ENSP00000506089.1:n.28+19173C>T
ENST00000453660.3:n.753C>T
ENST00000538324.2:c.739C>T	ENSP00000483018.1:p.Arg247Cys
ENST00000611156.4:c.739C>T	ENSP00000483265.1:p.Arg247Cys
NM_020469.2:c.742C>T	NP_065202.2:p.Arg248Cys
NM_020469.3:c.742C>T	NP_065202.2:p.Arg248Cys