Canonical Allele Identifier: CA472885688
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247831C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226601C>G , CM000673.2:g.5226601C>G GRCh38
NC_000011.9:g.5247831C>G , CM000673.1:g.5247831C>G GRCh37
NC_000011.8:g.5204407C>G NCBI36
NG_000007.3:g.71015G>C
NG_059281.1:g.5471G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.291G>C ENSP00000494175.1:p.Leu97=
ENST00000335295.4:c.291G>C MANE Select ENSP00000333994.3:p.Leu97=
ENST00000475226.1:n.223G>C
ENST00000485743.1:n.342G>C
ENST00000633227.1:c.*107G>C ENSP00000488004.1:n.*107G>C
NM_000518.4:c.291G>C NP_000509.1:p.Leu97=
NM_000518.5:c.291G>C MANE Select NP_000509.1:p.Leu97=
Search 100 bp 5'
Search 100 bp 3'