Canonical Allele Identifier: CA472885862
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5248209G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226979G>A , CM000673.2:g.5226979G>A GRCh38
NC_000011.9:g.5248209G>A , CM000673.1:g.5248209G>A GRCh37
NC_000011.8:g.5204785G>A NCBI36
NG_000007.3:g.70637C>T
NG_059281.1:g.5093C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.43C>T ENSP00000494175.1:p.Leu15=
ENST00000335295.4:c.43C>T MANE Select ENSP00000333994.3:p.Leu15=
ENST00000380315.2:c.43C>T ENSP00000369671.2:p.Leu15=
ENST00000485743.1:n.94C>T
ENST00000633227.1:c.43C>T ENSP00000488004.1:p.Leu15=
NM_000518.4:c.43C>T NP_000509.1:p.Leu15=
NM_000518.5:c.43C>T MANE Select NP_000509.1:p.Leu15=