ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686155
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131574G>A (hg19)
chr9:g.133256187G>A (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256187G>A , CM000671.2:g.133256187G>A
GRCh38
NC_000009.11:g.136131574G>A , CM000671.1:g.136131574G>A
GRCh37
NC_000009.10:g.135121395G>A
NCBI36
NG_006669.1:g.21481C>T
NG_006669.2:g.24029C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.573C>T
ENST00000647353.1:n.54-5035C>T
ENST00000651471.1:n.499C>T
ENST00000679909.1:c.28+18975C>T
ENSP00000506089.1:n.28+18975C>T
ENST00000453660.3:n.555C>T
ENST00000538324.2:c.541C>T
ENSP00000483018.1:p.Gln181Ter
ENST00000611156.4:c.541C>T
ENSP00000483265.1:p.Gln181Ter
NM_020469.2:c.544C>T
NP_065202.2:p.Gln182Ter
NM_020469.3:c.544C>T
NP_065202.2:p.Gln182Ter
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