Canonical Allele Identifier: CA125454
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15565
dbSNP Id: rs33929415
gnomAD v2: 11-5246842-G-A
gnomAD v3: 11-5225612-G-A
gnomAD v4: 11-5225612-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225612G>A , CM000673.2:g.5225612G>A GRCh38
NC_000011.9:g.5246842G>A , CM000673.1:g.5246842G>A GRCh37
NC_000011.8:g.5203418G>A NCBI36
NG_000007.3:g.72004C>T
NG_059281.1:g.6460C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.430C>T ENSP00000494175.1:p.His144Tyr
ENST00000335295.4:c.430C>T MANE Select ENSP00000333994.3:p.His144Tyr
ENST00000633227.1:c.*246C>T ENSP00000488004.1:n.*246C>T
NM_000518.4:c.430C>T NP_000509.1:p.His144Tyr
NM_000518.5:c.430C>T MANE Select NP_000509.1:p.His144Tyr