Canonical Allele Identifier: CA467780945
Gene: ABO HGNC NCBI

Linked Data

dbSNP Id: rs1834550611
gnomAD v4: 9-133255466-C-G
MyVariant Identifiers: chr9:g.136130853C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255466C>G , CM000671.2:g.133255466C>G GRCh38
NC_000009.11:g.136130853C>G , CM000671.1:g.136130853C>G GRCh37
NC_000009.10:g.135120674C>G NCBI36
NG_006669.1:g.22202G>C
NG_006669.2:g.24750G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1294G>C
ENST00000647353.1:n.54-4314G>C
ENST00000679909.1:c.28+19696G>C ENSP00000506089.1:n.28+19696G>C
ENST00000453660.3:n.1276G>C
ENST00000611156.4:c.*200G>C ENSP00000483265.1:n.*200G>C
NM_020469.2:c.*200G>C NP_065202.2:n.*200G>C
NM_020469.3:c.*200G>C NP_065202.2:n.*200G>C
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