Canonical Allele Identifier: CA5305957

Gene: ABO

Linked Data

• dbSNP Id: rs782069936
• ExAC: 9:136133490 G / C
• gnomAD v2: 9-136133490-G-C
• gnomAD v3: 9-133258100-G-C
• gnomAD v4: 9-133258100-G-C
• MyVariant Identifiers: chr9:g.136133490G>C (hg19) ; chr9:g.133258100G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133258100G>C , CM000671.2:g.133258100G>C	GRCh38
NC_000009.11:g.136133490G>C , CM000671.1:g.136133490G>C	GRCh37
NC_000009.10:g.135123311G>C	NCBI36
NG_006669.1:g.19564C>G
NG_006669.2:g.22115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000453660.4:n.266C>G
ENST00000647353.1:n.54-6948C>G
ENST00000651471.1:n.271C>G
ENST00000679909.1:c.28+17062C>G	ENSP00000506089.1:n.28+17062C>G
ENST00000453660.3:n.248C>G
ENST00000538324.2:c.236C>G	ENSP00000483018.1:p.Pro79Arg
ENST00000611156.4:c.236C>G	ENSP00000483265.1:p.Pro79Arg
NM_020469.2:c.236C>G	NP_065202.2:p.Pro79Arg
NM_020469.3:c.236C>G	NP_065202.2:p.Pro79Arg