Canonical Allele Identifier: CA217115444
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 439152
ClinVar RCV Id: RCV000507628
dbSNP Id: rs63750717
gnomAD v4: 11-5226991-C-T
MyVariant Identifiers: chr11:g.5248221C>T (hg19) chr11:g.5226991C>T (hg38)
PubMed: PMID:19205972
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226991C>T , CM000673.2:g.5226991C>T GRCh38
NC_000011.9:g.5248221C>T , CM000673.1:g.5248221C>T GRCh37
NC_000011.8:g.5204797C>T NCBI36
NG_000007.3:g.70625G>A
NG_059281.1:g.5081G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.31G>A ENSP00000494175.1:p.Ala11Thr
ENST00000335295.4:c.31G>A MANE Select ENSP00000333994.3:p.Ala11Thr
ENST00000380315.2:c.31G>A ENSP00000369671.2:p.Ala11Thr
ENST00000485743.1:n.82G>A
ENST00000633227.1:c.31G>A ENSP00000488004.1:p.Ala11Thr
NM_000518.4:c.31G>A NP_000509.1:p.Ala11Thr
NM_000518.5:c.31G>A MANE Select NP_000509.1:p.Ala11Thr
Search 100 bp 5'
Search 100 bp 3'