Canonical Allele Identifier: CA472638702
Gene: HBB HGNC NCBI

Linked Data

gnomAD v4: 11-5225709-C-A
MyVariant Identifiers: chr11:g.5246939C>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225709C>A , CM000673.2:g.5225709C>A GRCh38
NC_000011.9:g.5246939C>A , CM000673.1:g.5246939C>A GRCh37
NC_000011.8:g.5203515C>A NCBI36
NG_000007.3:g.71907G>T
NG_059281.1:g.6363G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.333G>T ENSP00000494175.1:p.Leu111=
ENST00000335295.4:c.333G>T MANE Select ENSP00000333994.3:p.Leu111=
ENST00000475226.1:n.265G>T
ENST00000633227.1:c.*149G>T ENSP00000488004.1:n.*149G>T
NM_000518.4:c.333G>T NP_000509.1:p.Leu111=
NM_000518.5:c.333G>T MANE Select NP_000509.1:p.Leu111=
Search 100 bp 5'
Search 100 bp 3'