Canonical Allele Identifier: CA1949570458
Gene: HBB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226951A= , CM000673.2:g.5226951A= GRCh38
NC_000011.9:g.5248181A= , CM000673.1:g.5248181A= GRCh37
NC_000011.8:g.5204757A= NCBI36
NG_000007.3:g.70665T=
NG_059281.1:g.5121T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.71T= ENSP00000494175.1:p.Val24=
ENST00000335295.4:c.71T= MANE Select ENSP00000333994.3:p.Val24=
ENST00000380315.2:c.71T= ENSP00000369671.2:p.Val24=
ENST00000485743.1:n.122T=
ENST00000633227.1:c.71T= ENSP00000488004.1:p.Val24=
NM_000518.4:c.71T= NP_000509.1:p.Val24=
NM_000518.5:c.71T= MANE Select NP_000509.1:p.Val24=