Canonical Allele Identifier: CA472885690
Gene: HBB HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5247831C>A (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.291G>T ENSP00000494175.1:p.Leu97=
ENST00000335295.4:c.291G>T MANE Select ENSP00000333994.3:p.Leu97=
ENST00000475226.1:n.223G>T
ENST00000485743.1:n.342G>T
ENST00000633227.1:c.*107G>T ENSP00000488004.1:n.*107G>T
NM_000518.4:c.291G>T NP_000509.1:p.Leu97=
NM_000518.5:c.291G>T MANE Select NP_000509.1:p.Leu97=
Search 100 bp 5'
Search 100 bp 3'