Canonical Allele Identifier: CA125100
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15310
ClinVar RCV Id: RCV000016550
dbSNP Id: rs35857380
MyVariant Identifiers: chr11:g.5248015T>A (hg19) chr11:g.5226785T>A (hg38)
PubMed: PMID:5822575 PMID:7216817
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226785T>A , CM000673.2:g.5226785T>A GRCh38
NC_000011.9:g.5248015T>A , CM000673.1:g.5248015T>A GRCh37
NC_000011.8:g.5204591T>A NCBI36
NG_000007.3:g.70831A>T
NG_059281.1:g.5287A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.107A>T ENSP00000494175.1:p.Tyr36Phe
ENST00000335295.4:c.107A>T MANE Select ENSP00000333994.3:p.Tyr36Phe
ENST00000380315.2:c.107A>T ENSP00000369671.2:p.Tyr36Phe
ENST00000475226.1:n.39A>T
ENST00000485743.1:n.158A>T
ENST00000633227.1:c.91A>T ENSP00000488004.1:p.Thr31Ser
NM_000518.4:c.107A>T NP_000509.1:p.Tyr36Phe
NM_000518.5:c.107A>T MANE Select NP_000509.1:p.Tyr36Phe
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