Canonical Allele Identifier: CA125336
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15480
dbSNP Id: rs34022507

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225726G>A , CM000673.2:g.5225726G>A GRCh38
NC_000011.9:g.5246956G>A , CM000673.1:g.5246956G>A GRCh37
NC_000011.8:g.5203532G>A NCBI36
NG_000007.3:g.71890C>T
NG_059281.1:g.6346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.316C>T ENSP00000494175.1:p.Leu106Phe
ENST00000335295.4:c.316C>T MANE Select ENSP00000333994.3:p.Leu106Phe
ENST00000475226.1:n.248C>T
ENST00000633227.1:c.*132C>T ENSP00000488004.1:n.*132C>T
NM_000518.4:c.316C>T NP_000509.1:p.Leu106Phe
NM_000518.5:c.316C>T MANE Select NP_000509.1:p.Leu106Phe