Canonical Allele Identifier: CA5305647

Gene: ABO

Linked Data

• dbSNP Id: rs530899597
• ExAC: 9:136131060 T / G
• gnomAD v2: 9-136131060-T-G
• gnomAD v3: 9-133255673-T-G
• gnomAD v4: 9-133255673-T-G
• MyVariant Identifiers: chr9:g.136131060T>G (hg19) ; chr9:g.133255673T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133255673T>G , CM000671.2:g.133255673T>G	GRCh38
NC_000009.11:g.136131060T>G , CM000671.1:g.136131060T>G	GRCh37
NC_000009.10:g.135120881T>G	NCBI36
NG_006669.1:g.21995A>C
NG_006669.2:g.24543A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.1087A>C
ENST00000647353.1:n.54-4521A>C
ENST00000679909.1:c.28+19489A>C	ENSP00000506089.1:n.28+19489A>C
ENST00000453660.3:n.1069A>C
ENST00000538324.2:c.1054-3A>C	ENSP00000483018.1:n.1054-3A>C
ENST00000611156.4:c.1055A>C	ENSP00000483265.1:p.Asn352Thr
NM_020469.2:c.1058A>C	NP_065202.2:p.Asn353Thr
NM_020469.3:c.1058A>C	NP_065202.2:p.Asn353Thr