Canonical Allele Identifier: CA125261
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15403
dbSNP Id: rs63750783

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226975C>T , CM000673.2:g.5226975C>T GRCh38
NC_000011.9:g.5248205C>T , CM000673.1:g.5248205C>T GRCh37
NC_000011.8:g.5204781C>T NCBI36
NG_000007.3:g.70641G>A
NG_059281.1:g.5097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.47G>A ENSP00000494175.1:p.Trp16Ter
ENST00000335295.4:c.47G>A MANE Select ENSP00000333994.3:p.Trp16Ter
ENST00000380315.2:c.47G>A ENSP00000369671.2:p.Trp16Ter
ENST00000485743.1:n.98G>A
ENST00000633227.1:c.47G>A ENSP00000488004.1:p.Trp16Ter
NM_000518.4:c.47G>A NP_000509.1:p.Trp16Ter
NM_000518.5:c.47G>A MANE Select NP_000509.1:p.Trp16Ter