Canonical Allele Identifier: CA5839721
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs768260954
ExAC: 11:5246990 T / G
gnomAD v2: 11-5246990-T-G
MyVariant Identifiers: chr11:g.5246990T>G (hg19) chr11:g.5225760T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225760T>G , CM000673.2:g.5225760T>G GRCh38
NC_000011.9:g.5246990T>G , CM000673.1:g.5246990T>G GRCh37
NC_000011.8:g.5203566T>G NCBI36
NG_000007.3:g.71856A>C
NG_059281.1:g.6312A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-34A>C ENSP00000494175.1:n.316-34A>C
ENST00000335295.4:c.316-34A>C MANE Select ENSP00000333994.3:n.316-34A>C
ENST00000475226.1:n.248-34A>C
ENST00000633227.1:c.*132-34A>C ENSP00000488004.1:n.*132-34A>C
NM_000518.4:c.316-34A>C NP_000509.1:n.316-34A>C
NM_000518.5:c.316-34A>C MANE Select NP_000509.1:n.316-34A>C
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