Canonical Allele Identifier: CA217114491
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs34378160
MyVariant Identifiers: chr11:g.5247994A>C (hg19) chr11:g.5226764A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226764A>C , CM000673.2:g.5226764A>C GRCh38
NC_000011.9:g.5247994A>C , CM000673.1:g.5247994A>C GRCh37
NC_000011.8:g.5204570A>C NCBI36
NG_000007.3:g.70852T>G
NG_059281.1:g.5308T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.128T>G ENSP00000494175.1:p.Phe43Cys
ENST00000335295.4:c.128T>G MANE Select ENSP00000333994.3:p.Phe43Cys
ENST00000380315.2:c.128T>G ENSP00000369671.2:p.Phe43Cys
ENST00000475226.1:n.60T>G
ENST00000485743.1:n.179T>G
ENST00000633227.1:c.112T>G ENSP00000488004.1:p.Leu38Val
NM_000518.4:c.128T>G NP_000509.1:p.Phe43Cys
NM_000518.5:c.128T>G MANE Select NP_000509.1:p.Phe43Cys
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