Canonical Allele Identifier: CA1139661797
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 993190
ClinVar RCV Id: RCV001284495
dbSNP Id: rs1428777319
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226813A>T , CM000673.2:g.5226813A>T GRCh38
NC_000011.9:g.5248043A>T , CM000673.1:g.5248043A>T GRCh37
NC_000011.8:g.5204619A>T NCBI36
NG_000007.3:g.70803T>A
NG_059281.1:g.5259T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.93-14T>A ENSP00000494175.1:n.93-14T>A
ENST00000335295.4:c.93-14T>A MANE Select ENSP00000333994.3:n.93-14T>A
ENST00000380315.2:c.93-14T>A ENSP00000369671.2:n.93-14T>A
ENST00000475226.1:n.11T>A
ENST00000485743.1:n.144-14T>A
ENST00000633227.1:c.77-14T>A ENSP00000488004.1:n.77-14T>A
NM_000518.4:c.93-14T>A NP_000509.1:n.93-14T>A
NM_000518.5:c.93-14T>A MANE Select NP_000509.1:n.93-14T>A
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