Canonical Allele Identifier: CA467780359
Gene: ABO HGNC NCBI

Linked Data

gnomAD v3: 9-133255385-T-G
gnomAD v4: 9-133255385-T-G
MyVariant Identifiers: chr9:g.136130772T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255385T>G , CM000671.2:g.133255385T>G GRCh38
NC_000009.11:g.136130772T>G , CM000671.1:g.136130772T>G GRCh37
NC_000009.10:g.135120593T>G NCBI36
NG_006669.1:g.22283A>C
NG_006669.2:g.24831A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000453660.4:n.1375A>C
ENST00000647353.1:n.54-4233A>C
ENST00000679909.1:c.28+19777A>C ENSP00000506089.1:n.28+19777A>C
ENST00000453660.3:n.1357A>C
ENST00000611156.4:c.*281A>C ENSP00000483265.1:n.*281A>C
NM_020469.2:c.*281A>C NP_065202.2:n.*281A>C
NM_020469.3:c.*281A>C NP_065202.2:n.*281A>C
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