ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685832
Gene: ABO
HGNC
NCBI
Linked Data
gnomAD v4:
9-133256092-G-T
MyVariant Identifiers:
chr9:g.136131479G>T (hg19)
chr9:g.133256092G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256092G>T , CM000671.2:g.133256092G>T
GRCh38
NC_000009.11:g.136131479G>T , CM000671.1:g.136131479G>T
GRCh37
NC_000009.10:g.135121300G>T
NCBI36
NG_006669.1:g.21576C>A
NG_006669.2:g.24124C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.668C>A
ENST00000647353.1:n.54-4940C>A
ENST00000679909.1:c.28+19070C>A
ENSP00000506089.1:n.28+19070C>A
ENST00000453660.3:n.650C>A
ENST00000538324.2:c.636C>A
ENSP00000483018.1:p.Asp212Glu
ENST00000611156.4:c.636C>A
ENSP00000483265.1:p.Asp212Glu
NM_020469.2:c.639C>A
NP_065202.2:p.Asp213Glu
NM_020469.3:c.639C>A
NP_065202.2:p.Asp213Glu
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