Canonical Allele Identifier: CA1949571344
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5227029G= , CM000673.2:g.5227029G= GRCh38
NC_000011.9:g.5248259G= , CM000673.1:g.5248259G= GRCh37
NC_000011.8:g.5204835G= NCBI36
NG_000007.3:g.70587C=
NG_059281.1:g.5043C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.-8C= ENSP00000494175.1:n.-8C=
ENST00000335295.4:c.-8C= MANE Select ENSP00000333994.3:n.-8C=
ENST00000380315.2:c.-8C= ENSP00000369671.2:n.-8C=
ENST00000485743.1:n.44C=
ENST00000633227.1:c.-8C= ENSP00000488004.1:n.-8C=
NM_000518.4:c.-8C= NP_000509.1:n.-8C=
NM_000518.5:c.-8C= MANE Select NP_000509.1:n.-8C=