ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686695
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1302039642
gnomAD v2:
9-136132877-C-A
gnomAD v4:
9-133257490-C-A
MyVariant Identifiers:
chr9:g.136132877C>A (hg19)
chr9:g.133257490C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257490C>A , CM000671.2:g.133257490C>A
GRCh38
NC_000009.11:g.136132877C>A , CM000671.1:g.136132877C>A
GRCh37
NC_000009.10:g.135122698C>A
NCBI36
NG_006669.1:g.20178G>T
NG_006669.2:g.22726G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.322G>T
ENST00000647353.1:n.54-6338G>T
ENST00000651471.1:n.329+552G>T
ENST00000679909.1:c.28+17672G>T
ENSP00000506089.1:n.28+17672G>T
ENST00000453660.3:n.304G>T
ENST00000538324.2:c.290G>T
ENSP00000483018.1:p.Gly97Val
ENST00000611156.4:c.290G>T
ENSP00000483265.1:p.Gly97Val
NM_020469.2:c.293G>T
NP_065202.2:p.Gly98Val
NM_020469.3:c.293G>T
NP_065202.2:p.Gly98Val
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