ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686186
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131588G>C (hg19)
chr9:g.133256201G>C (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256201G>C , CM000671.2:g.133256201G>C
GRCh38
NC_000009.11:g.136131588G>C , CM000671.1:g.136131588G>C
GRCh37
NC_000009.10:g.135121409G>C
NCBI36
NG_006669.1:g.21467C>G
NG_006669.2:g.24015C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.559C>G
ENST00000647353.1:n.54-5049C>G
ENST00000651471.1:n.485C>G
ENST00000679909.1:c.28+18961C>G
ENSP00000506089.1:n.28+18961C>G
ENST00000453660.3:n.541C>G
ENST00000538324.2:c.527C>G
ENSP00000483018.1:p.Ala176Gly
ENST00000611156.4:c.527C>G
ENSP00000483265.1:p.Ala176Gly
NM_020469.2:c.530C>G
NP_065202.2:p.Ala177Gly
NM_020469.3:c.530C>G
NP_065202.2:p.Ala177Gly
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