ClinGen Allele Registry
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Canonical Allele Identifier:
CA375683705
Gene: ABO
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.136131139G>T (hg19)
chr9:g.133255752G>T (hg38)
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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.133255752G>T , CM000671.2:g.133255752G>T
GRCh38
NC_000009.11:g.136131139G>T , CM000671.1:g.136131139G>T
GRCh37
NC_000009.10:g.135120960G>T
NCBI36
NG_006669.1:g.21916C>A
NG_006669.2:g.24464C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000453660.4:n.1008C>A
ENST00000647353.1:n.54-4600C>A
ENST00000679909.1:c.28+19410C>A
ENSP00000506089.1:n.28+19410C>A
ENST00000453660.3:n.990C>A
ENST00000538324.2:c.976C>A
ENSP00000483018.1:p.Gln326Lys
ENST00000611156.4:c.976C>A
ENSP00000483265.1:p.Gln326Lys
NM_020469.2:c.979C>A
NP_065202.2:p.Gln327Lys
NM_020469.3:c.979C>A
NP_065202.2:p.Gln327Lys
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