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Canonical Allele Identifier:
CA5305756
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs782188206
ExAC:
9:136131394 C / G
gnomAD v2:
9-136131394-C-G
gnomAD v4:
9-133256007-C-G
MyVariant Identifiers:
chr9:g.136131394C>G (hg19)
chr9:g.133256007C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256007C>G , CM000671.2:g.133256007C>G
GRCh38
NC_000009.11:g.136131394C>G , CM000671.1:g.136131394C>G
GRCh37
NC_000009.10:g.135121215C>G
NCBI36
NG_006669.1:g.21661G>C
NG_006669.2:g.24209G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.753G>C
ENST00000647353.1:n.54-4855G>C
ENST00000679909.1:c.28+19155G>C
ENSP00000506089.1:n.28+19155G>C
ENST00000453660.3:n.735G>C
ENST00000538324.2:c.721G>C
ENSP00000483018.1:p.Glu241Gln
ENST00000611156.4:c.721G>C
ENSP00000483265.1:p.Glu241Gln
NM_020469.2:c.724G>C
NP_065202.2:p.Glu242Gln
NM_020469.3:c.724G>C
NP_065202.2:p.Glu242Gln
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