Canonical Allele Identifier: CA10587129
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 256344
ClinVar RCV Id: RCV000244119 RCV000980922
dbSNP Id: rs36038739
MyVariant Identifiers: chr11:g.5247834C>T (hg19) chr11:g.5226604C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226604C>T , CM000673.2:g.5226604C>T GRCh38
NC_000011.9:g.5247834C>T , CM000673.1:g.5247834C>T GRCh37
NC_000011.8:g.5204410C>T NCBI36
NG_000007.3:g.71012G>A
NG_059281.1:g.5468G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.288G>A ENSP00000494175.1:p.Lys96=
ENST00000335295.4:c.288G>A MANE Select ENSP00000333994.3:p.Lys96=
ENST00000475226.1:n.220G>A
ENST00000485743.1:n.339G>A
ENST00000633227.1:c.*104G>A ENSP00000488004.1:n.*104G>A
NM_000518.4:c.288G>A NP_000509.1:p.Lys96=
NM_000518.5:c.288G>A MANE Select NP_000509.1:p.Lys96=
Search 100 bp 5'
Search 100 bp 3'