Canonical Allele Identifier: CA1949563782
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225504A= , CM000673.2:g.5225504A= GRCh38
NC_000011.9:g.5246734A= , CM000673.1:g.5246734A= GRCh37
NC_000011.8:g.5203310A= NCBI36
NG_000007.3:g.72112T=
NG_059281.1:g.6568T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.*94T= ENSP00000494175.1:n.*94T=
ENST00000335295.4:c.*94T= MANE Select ENSP00000333994.3:n.*94T=
ENST00000633227.1:c.*354T= ENSP00000488004.1:n.*354T=
NM_000518.4:c.*94T= NP_000509.1:n.*94T=
NM_000518.5:c.*94T= MANE Select NP_000509.1:n.*94T=