Canonical Allele Identifier: CA2579829360
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 1705167
ClinVar RCV Id: RCV002281797
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227173G>T , CM000673.2:g.5227173G>T GRCh38
NC_000011.9:g.5248403G>T , CM000673.1:g.5248403G>T GRCh37
NC_000011.8:g.5204979G>T NCBI36
NG_000007.3:g.70443C>A
NG_059281.1:g.4899C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-152C>A ENSP00000494175.1:n.-152C>A
ENST00000380315.2:c.-18-134C>A ENSP00000369671.2:n.-18-134C>A
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