ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685329
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1312227713
gnomAD v2:
9-136131388-A-G
gnomAD v4:
9-133256001-A-G
MyVariant Identifiers:
chr9:g.136131388A>G (hg19)
chr9:g.133256001A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256001A>G , CM000671.2:g.133256001A>G
GRCh38
NC_000009.11:g.136131388A>G , CM000671.1:g.136131388A>G
GRCh37
NC_000009.10:g.135121209A>G
NCBI36
NG_006669.1:g.21667T>C
NG_006669.2:g.24215T>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.759T>C
ENST00000647353.1:n.54-4849T>C
ENST00000679909.1:c.28+19161T>C
ENSP00000506089.1:n.28+19161T>C
ENST00000453660.3:n.741T>C
ENST00000538324.2:c.727T>C
ENSP00000483018.1:p.Phe243Leu
ENST00000611156.4:c.727T>C
ENSP00000483265.1:p.Phe243Leu
NM_020469.2:c.730T>C
NP_065202.2:p.Phe244Leu
NM_020469.3:c.730T>C
NP_065202.2:p.Phe244Leu
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