ClinGen Allele Registry
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Canonical Allele Identifier:
CA375686129
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131561A>T (hg19)
chr9:g.133256174A>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133256174A>T , CM000671.2:g.133256174A>T
GRCh38
NC_000009.11:g.136131561A>T , CM000671.1:g.136131561A>T
GRCh37
NC_000009.10:g.135121382A>T
NCBI36
NG_006669.1:g.21494T>A
NG_006669.2:g.24042T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000453660.4:n.586T>A
ENST00000647353.1:n.54-5022T>A
ENST00000651471.1:n.512T>A
ENST00000679909.1:c.28+18988T>A
ENSP00000506089.1:n.28+18988T>A
ENST00000453660.3:n.568T>A
ENST00000538324.2:c.554T>A
ENSP00000483018.1:p.Met185Lys
ENST00000611156.4:c.554T>A
ENSP00000483265.1:p.Met185Lys
NM_020469.2:c.557T>A
NP_065202.2:p.Met186Lys
NM_020469.3:c.557T>A
NP_065202.2:p.Met186Lys
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