Canonical Allele Identifier: CA2612162271
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226847-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226847C>T , CM000673.2:g.5226847C>T GRCh38
NC_000011.9:g.5248077C>T , CM000673.1:g.5248077C>T GRCh37
NC_000011.8:g.5204653C>T NCBI36
NG_000007.3:g.70769G>A
NG_059281.1:g.5225G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-48G>A ENSP00000494175.1:n.93-48G>A
ENST00000335295.4:c.93-48G>A MANE Select ENSP00000333994.3:n.93-48G>A
ENST00000380315.2:c.93-48G>A ENSP00000369671.2:n.93-48G>A
ENST00000485743.1:n.144-48G>A
ENST00000633227.1:c.77-48G>A ENSP00000488004.1:n.77-48G>A
NM_000518.4:c.93-48G>A NP_000509.1:n.93-48G>A
NM_000518.5:c.93-48G>A MANE Select NP_000509.1:n.93-48G>A
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