ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683464
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131099C>T (hg19)
chr9:g.133255712C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255712C>T , CM000671.2:g.133255712C>T
GRCh38
NC_000009.11:g.136131099C>T , CM000671.1:g.136131099C>T
GRCh37
NC_000009.10:g.135120920C>T
NCBI36
NG_006669.1:g.21956G>A
NG_006669.2:g.24504G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.1048G>A
ENST00000647353.1:n.54-4560G>A
ENST00000679909.1:c.28+19450G>A
ENSP00000506089.1:n.28+19450G>A
ENST00000453660.3:n.1030G>A
ENST00000538324.2:c.1016G>A
ENSP00000483018.1:p.Arg339Lys
ENST00000611156.4:c.1016G>A
ENSP00000483265.1:p.Arg339Lys
NM_020469.2:c.1019G>A
NP_065202.2:p.Arg340Lys
NM_020469.3:c.1019G>A
NP_065202.2:p.Arg340Lys
Search 100 bp 5'
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