Canonical Allele Identifier: CA125030
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15267
ClinVar RCV Id: RCV001811158
dbSNP Id: rs34868397
MyVariant Identifiers: chr11:g.5247988G>C (hg19) chr11:g.5226758G>C (hg38)
PubMed: PMID:4283785
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226758G>C , CM000673.2:g.5226758G>C GRCh38
NC_000011.9:g.5247988G>C , CM000673.1:g.5247988G>C GRCh37
NC_000011.8:g.5204564G>C NCBI36
NG_000007.3:g.70858C>G
NG_059281.1:g.5314C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.134C>G ENSP00000494175.1:p.Ser45Cys
ENST00000335295.4:c.134C>G MANE Select ENSP00000333994.3:p.Ser45Cys
ENST00000380315.2:c.134C>G ENSP00000369671.2:p.Ser45Cys
ENST00000475226.1:n.66C>G
ENST00000485743.1:n.185C>G
ENST00000633227.1:c.118C>G ENSP00000488004.1:p.Pro40Ala
NM_000518.4:c.134C>G NP_000509.1:p.Ser45Cys
NM_000518.5:c.134C>G MANE Select NP_000509.1:p.Ser45Cys
Search 100 bp 5'
Search 100 bp 3'