Canonical Allele Identifier: CA217115348
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs35802118

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226967C>A , CM000673.2:g.5226967C>A GRCh38
NC_000011.9:g.5248197C>A , CM000673.1:g.5248197C>A GRCh37
NC_000011.8:g.5204773C>A NCBI36
NG_000007.3:g.70649G>T
NG_059281.1:g.5105G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.55G>T ENSP00000494175.1:p.Val19Leu
ENST00000335295.4:c.55G>T MANE Select ENSP00000333994.3:p.Val19Leu
ENST00000380315.2:c.55G>T ENSP00000369671.2:p.Val19Leu
ENST00000485743.1:n.106G>T
ENST00000633227.1:c.55G>T ENSP00000488004.1:p.Val19Leu
NM_000518.4:c.55G>T NP_000509.1:p.Val19Leu
NM_000518.5:c.55G>T MANE Select NP_000509.1:p.Val19Leu