ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305791
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782526505
ExAC:
9:136131499 G / C
gnomAD v2:
9-136131499-G-C
gnomAD v3:
9-133256112-G-C
gnomAD v4:
9-133256112-G-C
MyVariant Identifiers:
chr9:g.136131499G>C (hg19)
chr9:g.133256112G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256112G>C , CM000671.2:g.133256112G>C
GRCh38
NC_000009.11:g.136131499G>C , CM000671.1:g.136131499G>C
GRCh37
NC_000009.10:g.135121320G>C
NCBI36
NG_006669.1:g.21556C>G
NG_006669.2:g.24104C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.648C>G
ENST00000647353.1:n.54-4960C>G
ENST00000651471.1:n.574C>G
ENST00000679909.1:c.28+19050C>G
ENSP00000506089.1:n.28+19050C>G
ENST00000453660.3:n.630C>G
ENST00000538324.2:c.616C>G
ENSP00000483018.1:p.Leu206Val
ENST00000611156.4:c.616C>G
ENSP00000483265.1:p.Leu206Val
NM_020469.2:c.619C>G
NP_065202.2:p.Leu207Val
NM_020469.3:c.619C>G
NP_065202.2:p.Leu207Val
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