ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686221
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131607A>T (hg19)
chr9:g.133256220A>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256220A>T , CM000671.2:g.133256220A>T
GRCh38
NC_000009.11:g.136131607A>T , CM000671.1:g.136131607A>T
GRCh37
NC_000009.10:g.135121428A>T
NCBI36
NG_006669.1:g.21448T>A
NG_006669.2:g.23996T>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.540T>A
ENST00000647353.1:n.54-5068T>A
ENST00000651471.1:n.466T>A
ENST00000679909.1:c.28+18942T>A
ENSP00000506089.1:n.28+18942T>A
ENST00000453660.3:n.522T>A
ENST00000538324.2:c.508T>A
ENSP00000483018.1:p.Ser170Thr
ENST00000611156.4:c.508T>A
ENSP00000483265.1:p.Ser170Thr
NM_020469.2:c.511T>A
NP_065202.2:p.Ser171Thr
NM_020469.3:c.511T>A
NP_065202.2:p.Ser171Thr
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