Canonical Allele Identifier: CA125141
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15339
ClinVar RCV Id: RCV000016582 RCV000641604
dbSNP Id: rs34980264
MyVariant Identifiers: chr11:g.5246851C>T (hg19) chr11:g.5225621C>T (hg38)
PubMed: PMID:6546989
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225621C>T , CM000673.2:g.5225621C>T GRCh38
NC_000011.9:g.5246851C>T , CM000673.1:g.5246851C>T GRCh37
NC_000011.8:g.5203427C>T NCBI36
NG_000007.3:g.71995G>A
NG_059281.1:g.6451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.421G>A ENSP00000494175.1:p.Ala141Thr
ENST00000335295.4:c.421G>A MANE Select ENSP00000333994.3:p.Ala141Thr
ENST00000633227.1:c.*237G>A ENSP00000488004.1:n.*237G>A
NM_000518.4:c.421G>A NP_000509.1:p.Ala141Thr
NM_000518.5:c.421G>A MANE Select NP_000509.1:p.Ala141Thr
Search 100 bp 5'
Search 100 bp 3'