Canonical Allele Identifier: CA2579829247
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227131-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227131T>A , CM000673.2:g.5227131T>A GRCh38
NC_000011.9:g.5248361T>A , CM000673.1:g.5248361T>A GRCh37
NC_000011.8:g.5204937T>A NCBI36
NG_000007.3:g.70485A>T
NG_059281.1:g.4941A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-110A>T ENSP00000494175.1:n.-110A>T
ENST00000380315.2:c.-18-92A>T ENSP00000369671.2:n.-18-92A>T
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