ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686748
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136132901C>G (hg19)
chr9:g.133257514C>G (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133257514C>G , CM000671.2:g.133257514C>G
GRCh38
NC_000009.11:g.136132901C>G , CM000671.1:g.136132901C>G
GRCh37
NC_000009.10:g.135122722C>G
NCBI36
NG_006669.1:g.20154G>C
NG_006669.2:g.22702G>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.298G>C
ENST00000647353.1:n.54-6362G>C
ENST00000651471.1:n.329+528G>C
ENST00000679909.1:c.28+17648G>C
ENSP00000506089.1:n.28+17648G>C
ENST00000453660.3:n.280G>C
ENST00000538324.2:c.266G>C
ENSP00000483018.1:p.Trp89Ser
ENST00000611156.4:c.266G>C
ENSP00000483265.1:p.Trp89Ser
NM_020469.2:c.269G>C
NP_065202.2:p.Trp90Ser
NM_020469.3:c.269G>C
NP_065202.2:p.Trp90Ser
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