ClinGen Allele Registry
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Canonical Allele Identifier:
CA375684108
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133255805-T-G
MyVariant Identifiers:
chr9:g.136131192T>G (hg19)
chr9:g.133255805T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255805T>G , CM000671.2:g.133255805T>G
GRCh38
NC_000009.11:g.136131192T>G , CM000671.1:g.136131192T>G
GRCh37
NC_000009.10:g.135121013T>G
NCBI36
NG_006669.1:g.21863A>C
NG_006669.2:g.24411A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.955A>C
ENST00000647353.1:n.54-4653A>C
ENST00000679909.1:c.28+19357A>C
ENSP00000506089.1:n.28+19357A>C
ENST00000453660.3:n.937A>C
ENST00000538324.2:c.923A>C
ENSP00000483018.1:p.Tyr308Ser
ENST00000611156.4:c.923A>C
ENSP00000483265.1:p.Tyr308Ser
NM_020469.2:c.926A>C
NP_065202.2:p.Tyr309Ser
NM_020469.3:c.926A>C
NP_065202.2:p.Tyr309Ser
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