Canonical Allele Identifier: CA379273636
Gene: HBB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225599T>G , CM000673.2:g.5225599T>G GRCh38
NC_000011.9:g.5246829T>G , CM000673.1:g.5246829T>G GRCh37
NC_000011.8:g.5203405T>G NCBI36
NG_000007.3:g.72017A>C
NG_059281.1:g.6473A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.443A>C ENSP00000494175.1:p.Ter148Ser
ENST00000335295.4:c.443A>C MANE Select ENSP00000333994.3:p.Ter148Ser
ENST00000633227.1:c.*259A>C ENSP00000488004.1:n.*259A>C
NM_000518.4:c.443A>C NP_000509.1:p.Ter148Ser
NM_000518.5:c.443A>C MANE Select NP_000509.1:p.Ter148Ser