Canonical Allele Identifier: CA217112264
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs33918338

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225611T>A , CM000673.2:g.5225611T>A GRCh38
NC_000011.9:g.5246841T>A , CM000673.1:g.5246841T>A GRCh37
NC_000011.8:g.5203417T>A NCBI36
NG_000007.3:g.72005A>T
NG_059281.1:g.6461A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.431A>T ENSP00000494175.1:p.His144Leu
ENST00000335295.4:c.431A>T MANE Select ENSP00000333994.3:p.His144Leu
ENST00000633227.1:c.*247A>T ENSP00000488004.1:n.*247A>T
NM_000518.4:c.431A>T NP_000509.1:p.His144Leu
NM_000518.5:c.431A>T MANE Select NP_000509.1:p.His144Leu