Canonical Allele Identifier: CA379274567
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 2691626
ClinVar RCV Id: RCV003490830
MyVariant Identifiers: chr11:g.5248006G>C (hg19) chr11:g.5226776G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226776G>C , CM000673.2:g.5226776G>C GRCh38
NC_000011.9:g.5248006G>C , CM000673.1:g.5248006G>C GRCh37
NC_000011.8:g.5204582G>C NCBI36
NG_000007.3:g.70840C>G
NG_059281.1:g.5296C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.116C>G ENSP00000494175.1:p.Thr39Ser
ENST00000335295.4:c.116C>G MANE Select ENSP00000333994.3:p.Thr39Ser
ENST00000380315.2:c.116C>G ENSP00000369671.2:p.Thr39Ser
ENST00000475226.1:n.48C>G
ENST00000485743.1:n.167C>G
ENST00000633227.1:c.100C>G ENSP00000488004.1:p.Pro34Ala
NM_000518.4:c.116C>G NP_000509.1:p.Thr39Ser
NM_000518.5:c.116C>G MANE Select NP_000509.1:p.Thr39Ser
Search 100 bp 5'
Search 100 bp 3'