Canonical Allele Identifier: CA1949566331
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1233384303
gnomAD v4: 11-5226171-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226171C>A , CM000673.2:g.5226171C>A GRCh38
NC_000011.9:g.5247401C>A , CM000673.1:g.5247401C>A GRCh37
NC_000011.8:g.5203977C>A NCBI36
NG_000007.3:g.71445G>T
NG_059281.1:g.5901G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.315+406G>T ENSP00000494175.1:n.315+406G>T
ENST00000335295.4:c.315+406G>T MANE Select ENSP00000333994.3:n.315+406G>T
ENST00000475226.1:n.247+406G>T
ENST00000633227.1:c.*131+406G>T ENSP00000488004.1:n.*131+406G>T
NM_000518.4:c.315+406G>T NP_000509.1:n.315+406G>T
NM_000518.5:c.315+406G>T MANE Select NP_000509.1:n.315+406G>T
Search 100 bp 5'
Search 100 bp 3'