Canonical Allele Identifier: CA124910
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15200
dbSNP Id: rs33961444

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225603G>C , CM000673.2:g.5225603G>C GRCh38
NC_000011.9:g.5246833G>C , CM000673.1:g.5246833G>C GRCh37
NC_000011.8:g.5203409G>C NCBI36
NG_000007.3:g.72013C>G
NG_059281.1:g.6469C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.439C>G ENSP00000494175.1:p.His147Asp
ENST00000335295.4:c.439C>G MANE Select ENSP00000333994.3:p.His147Asp
ENST00000633227.1:c.*255C>G ENSP00000488004.1:n.*255C>G
NM_000518.4:c.439C>G NP_000509.1:p.His147Asp
NM_000518.5:c.439C>G MANE Select NP_000509.1:p.His147Asp