ClinGen Allele Registry
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Canonical Allele Identifier:
CA375685205
Gene: ABO
HGNC
NCBI
Linked Data
dbSNP Id:
rs1376585957
gnomAD v2:
9-136131338-C-G
MyVariant Identifiers:
chr9:g.136131338C>G (hg19)
chr9:g.133255951C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255951C>G , CM000671.2:g.133255951C>G
GRCh38
NC_000009.11:g.136131338C>G , CM000671.1:g.136131338C>G
GRCh37
NC_000009.10:g.135121159C>G
NCBI36
NG_006669.1:g.21717G>C
NG_006669.2:g.24265G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.809G>C
ENST00000647353.1:n.54-4799G>C
ENST00000679909.1:c.28+19211G>C
ENSP00000506089.1:n.28+19211G>C
ENST00000453660.3:n.791G>C
ENST00000538324.2:c.777G>C
ENSP00000483018.1:p.Glu259Asp
ENST00000611156.4:c.777G>C
ENSP00000483265.1:p.Glu259Asp
NM_020469.2:c.780G>C
NP_065202.2:p.Glu260Asp
NM_020469.3:c.780G>C
NP_065202.2:p.Glu260Asp
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