Canonical Allele Identifier: CA5305748

Gene: ABO

Linked Data

• dbSNP Id: rs543029446
• ExAC: 9:136131375 C / G
• gnomAD v2: 9-136131375-C-G
• gnomAD v3: 9-133255988-C-G
• gnomAD v4: 9-133255988-C-G
• MyVariant Identifiers: chr9:g.136131375C>G (hg19) ; chr9:g.133255988C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255988C>G , CM000671.2:g.133255988C>G	GRCh38
NC_000009.11:g.136131375C>G , CM000671.1:g.136131375C>G	GRCh37
NC_000009.10:g.135121196C>G	NCBI36
NG_006669.1:g.21680G>C
NG_006669.2:g.24228G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000453660.4:n.772G>C
ENST00000647353.1:n.54-4836G>C
ENST00000679909.1:c.28+19174G>C	ENSP00000506089.1:n.28+19174G>C
ENST00000453660.3:n.754G>C
ENST00000538324.2:c.740G>C	ENSP00000483018.1:p.Arg247Pro
ENST00000611156.4:c.740G>C	ENSP00000483265.1:p.Arg247Pro
NM_020469.2:c.743G>C	NP_065202.2:p.Arg248Pro
NM_020469.3:c.743G>C	NP_065202.2:p.Arg248Pro