Canonical Allele Identifier: CA125263
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15404
dbSNP Id: rs33946267
gnomAD v4: 11-5225678-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225678C>A , CM000673.2:g.5225678C>A GRCh38
NC_000011.9:g.5246908C>A , CM000673.1:g.5246908C>A GRCh37
NC_000011.8:g.5203484C>A NCBI36
NG_000007.3:g.71938G>T
NG_059281.1:g.6394G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.364G>T ENSP00000494175.1:p.Glu122Ter
ENST00000335295.4:c.364G>T MANE Select ENSP00000333994.3:p.Glu122Ter
ENST00000475226.1:n.296G>T
ENST00000633227.1:c.*180G>T ENSP00000488004.1:n.*180G>T
NM_000518.4:c.364G>T NP_000509.1:p.Glu122Ter
NM_000518.5:c.364G>T MANE Select NP_000509.1:p.Glu122Ter