ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305843
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs372974294
ExAC:
9:136131673 A / G
gnomAD v2:
9-136131673-A-G
MyVariant Identifiers:
chr9:g.136131673A>G (hg19)
chr9:g.133256286A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256286A>G , CM000671.2:g.133256286A>G
GRCh38
NC_000009.11:g.136131673A>G , CM000671.1:g.136131673A>G
GRCh37
NC_000009.10:g.135121494A>G
NCBI36
NG_006669.1:g.21382T>C
NG_006669.2:g.23930T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.474T>C
ENST00000647353.1:n.54-5134T>C
ENST00000651471.1:n.400T>C
ENST00000679909.1:c.28+18876T>C
ENSP00000506089.1:n.28+18876T>C
ENST00000453660.3:n.456T>C
ENST00000538324.2:c.442T>C
ENSP00000483018.1:p.Tyr148His
ENST00000611156.4:c.442T>C
ENSP00000483265.1:p.Tyr148His
NM_020469.2:c.445T>C
NP_065202.2:p.Tyr149His
NM_020469.3:c.445T>C
NP_065202.2:p.Tyr149His
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