ClinGen Allele Registry
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Canonical Allele Identifier:
CA5305691
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782036673
ExAC:
9:136131219 C / T
gnomAD v2:
9-136131219-C-T
gnomAD v4:
9-133255832-C-T
MyVariant Identifiers:
chr9:g.136131219C>T (hg19)
chr9:g.133255832C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255832C>T , CM000671.2:g.133255832C>T
GRCh38
NC_000009.11:g.136131219C>T , CM000671.1:g.136131219C>T
GRCh37
NC_000009.10:g.135121040C>T
NCBI36
NG_006669.1:g.21836G>A
NG_006669.2:g.24384G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.928G>A
ENST00000647353.1:n.54-4680G>A
ENST00000679909.1:c.28+19330G>A
ENSP00000506089.1:n.28+19330G>A
ENST00000453660.3:n.910G>A
ENST00000538324.2:c.896G>A
ENSP00000483018.1:p.Trp299Ter
ENST00000611156.4:c.896G>A
ENSP00000483265.1:p.Trp299Ter
NM_020469.2:c.899G>A
NP_065202.2:p.Trp300Ter
NM_020469.3:c.899G>A
NP_065202.2:p.Trp300Ter
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