Canonical Allele Identifier: CA2580980478
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5226820-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226820C>G , CM000673.2:g.5226820C>G GRCh38
NC_000011.9:g.5248050C>G , CM000673.1:g.5248050C>G GRCh37
NC_000011.8:g.5204626C>G NCBI36
NG_000007.3:g.70796G>C
NG_059281.1:g.5252G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-21G>C ENSP00000494175.1:n.93-21G>C
ENST00000335295.4:c.93-21G>C MANE Select ENSP00000333994.3:n.93-21G>C
ENST00000380315.2:c.93-21G>C ENSP00000369671.2:n.93-21G>C
ENST00000475226.1:n.4G>C
ENST00000485743.1:n.144-21G>C
ENST00000633227.1:c.77-21G>C ENSP00000488004.1:n.77-21G>C
NM_000518.4:c.93-21G>C NP_000509.1:n.93-21G>C
NM_000518.5:c.93-21G>C MANE Select NP_000509.1:n.93-21G>C
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