Canonical Allele Identifier: CA597217548
Gene: HBB HGNC NCBI

Linked Data

dbSNP Id: rs1270455508
gnomAD v2: 11-5247192-G-C
MyVariant Identifiers: chr11:g.5247192G>C (hg19) chr11:g.5225962G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225962G>C , CM000673.2:g.5225962G>C GRCh38
NC_000011.9:g.5247192G>C , CM000673.1:g.5247192G>C GRCh37
NC_000011.8:g.5203768G>C NCBI36
NG_000007.3:g.71654C>G
NG_059281.1:g.6110C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.316-236C>G ENSP00000494175.1:n.316-236C>G
ENST00000335295.4:c.316-236C>G MANE Select ENSP00000333994.3:n.316-236C>G
ENST00000475226.1:n.248-236C>G
ENST00000633227.1:c.*132-236C>G ENSP00000488004.1:n.*132-236C>G
NM_000518.4:c.316-236C>G NP_000509.1:n.316-236C>G
NM_000518.5:c.316-236C>G MANE Select NP_000509.1:n.316-236C>G
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