ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685372
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs868656449
gnomAD v2:
9-136131396-C-T
gnomAD v3:
9-133256009-C-T
gnomAD v4:
9-133256009-C-T
MyVariant Identifiers:
chr9:g.136131396C>T (hg19)
chr9:g.133256009C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256009C>T , CM000671.2:g.133256009C>T
GRCh38
NC_000009.11:g.136131396C>T , CM000671.1:g.136131396C>T
GRCh37
NC_000009.10:g.135121217C>T
NCBI36
NG_006669.1:g.21659G>A
NG_006669.2:g.24207G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.751G>A
ENST00000647353.1:n.54-4857G>A
ENST00000679909.1:c.28+19153G>A
ENSP00000506089.1:n.28+19153G>A
ENST00000453660.3:n.733G>A
ENST00000538324.2:c.719G>A
ENSP00000483018.1:p.Arg240Gln
ENST00000611156.4:c.719G>A
ENSP00000483265.1:p.Arg240Gln
NM_020469.2:c.722G>A
NP_065202.2:p.Arg241Gln
NM_020469.3:c.722G>A
NP_065202.2:p.Arg241Gln
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