ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685808
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1285446079
gnomAD v2:
9-136131477-A-G
gnomAD v3:
9-133256090-A-G
gnomAD v4:
9-133256090-A-G
MyVariant Identifiers:
chr9:g.136131477A>G (hg19)
chr9:g.133256090A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256090A>G , CM000671.2:g.133256090A>G
GRCh38
NC_000009.11:g.136131477A>G , CM000671.1:g.136131477A>G
GRCh37
NC_000009.10:g.135121298A>G
NCBI36
NG_006669.1:g.21578T>C
NG_006669.2:g.24126T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.670T>C
ENST00000647353.1:n.54-4938T>C
ENST00000679909.1:c.28+19072T>C
ENSP00000506089.1:n.28+19072T>C
ENST00000453660.3:n.652T>C
ENST00000538324.2:c.638T>C
ENSP00000483018.1:p.Met213Thr
ENST00000611156.4:c.638T>C
ENSP00000483265.1:p.Met213Thr
NM_020469.2:c.641T>C
NP_065202.2:p.Met214Thr
NM_020469.3:c.641T>C
NP_065202.2:p.Met214Thr
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