Canonical Allele Identifier: CA1949567146
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1847548933
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226546A>G , CM000673.2:g.5226546A>G GRCh38
NC_000011.9:g.5247776A>G , CM000673.1:g.5247776A>G GRCh37
NC_000011.8:g.5204352A>G NCBI36
NG_000007.3:g.71070T>C
NG_059281.1:g.5526T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+31T>C ENSP00000494175.1:n.315+31T>C
ENST00000335295.4:c.315+31T>C MANE Select ENSP00000333994.3:n.315+31T>C
ENST00000475226.1:n.247+31T>C
ENST00000485743.1:n.397T>C
ENST00000633227.1:c.*131+31T>C ENSP00000488004.1:n.*131+31T>C
NM_000518.4:c.315+31T>C NP_000509.1:n.315+31T>C
NM_000518.5:c.315+31T>C MANE Select NP_000509.1:n.315+31T>C
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