Canonical Allele Identifier: CA467782060
Gene: ABO HGNC NCBI

Linked Data

gnomAD v4: 9-133255617-G-T
MyVariant Identifiers: chr9:g.136131004G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133255617G>T , CM000671.2:g.133255617G>T GRCh38
NC_000009.11:g.136131004G>T , CM000671.1:g.136131004G>T GRCh37
NC_000009.10:g.135120825G>T NCBI36
NG_006669.1:g.22051C>A
NG_006669.2:g.24599C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000453660.4:n.1143C>A
ENST00000647353.1:n.54-4465C>A
ENST00000679909.1:c.28+19545C>A ENSP00000506089.1:n.28+19545C>A
ENST00000453660.3:n.1125C>A
ENST00000538324.2:c.1107C>A ENSP00000483018.1:p.Ser369=
ENST00000611156.4:c.*49C>A ENSP00000483265.1:n.*49C>A
NM_020469.2:c.*49C>A NP_065202.2:n.*49C>A
NM_020469.3:c.*49C>A NP_065202.2:n.*49C>A
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