Canonical Allele Identifier: CA2612162285
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226906-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226906C>A , CM000673.2:g.5226906C>A GRCh38
NC_000011.9:g.5248136C>A , CM000673.1:g.5248136C>A GRCh37
NC_000011.8:g.5204712C>A NCBI36
NG_000007.3:g.70710G>T
NG_059281.1:g.5166G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.92+24G>T ENSP00000494175.1:n.92+24G>T
ENST00000335295.4:c.92+24G>T MANE Select ENSP00000333994.3:n.92+24G>T
ENST00000380315.2:c.92+24G>T ENSP00000369671.2:n.92+24G>T
ENST00000485743.1:n.143+24G>T
ENST00000633227.1:c.76+40G>T ENSP00000488004.1:n.76+40G>T
NM_000518.4:c.92+24G>T NP_000509.1:n.92+24G>T
NM_000518.5:c.92+24G>T MANE Select NP_000509.1:n.92+24G>T
Search 100 bp 5'
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