Canonical Allele Identifier: CA2579829335
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5227165-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227165C>A , CM000673.2:g.5227165C>A GRCh38
NC_000011.9:g.5248395C>A , CM000673.1:g.5248395C>A GRCh37
NC_000011.8:g.5204971C>A NCBI36
NG_000007.3:g.70451G>T
NG_059281.1:g.4907G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.-144G>T ENSP00000494175.1:n.-144G>T
ENST00000380315.2:c.-18-126G>T ENSP00000369671.2:n.-18-126G>T
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