Canonical Allele Identifier: CA467780678
Gene: ABO HGNC NCBI

Linked Data

gnomAD v3: 9-133255428-C-G
gnomAD v4: 9-133255428-C-G
MyVariant Identifiers: chr9:g.136130815C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255428C>G , CM000671.2:g.133255428C>G GRCh38
NC_000009.11:g.136130815C>G , CM000671.1:g.136130815C>G GRCh37
NC_000009.10:g.135120636C>G NCBI36
NG_006669.1:g.22240G>C
NG_006669.2:g.24788G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1332G>C
ENST00000647353.1:n.54-4276G>C
ENST00000679909.1:c.28+19734G>C ENSP00000506089.1:n.28+19734G>C
ENST00000453660.3:n.1314G>C
ENST00000611156.4:c.*238G>C ENSP00000483265.1:n.*238G>C
NM_020469.2:c.*238G>C NP_065202.2:n.*238G>C
NM_020469.3:c.*238G>C NP_065202.2:n.*238G>C
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