Canonical Allele Identifier: CA125026
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15265
ClinVar RCV Id: RCV000016489 RCV000641529
dbSNP Id: rs35291591
MyVariant Identifiers: chr11:g.5246834A>T (hg19) chr11:g.5225604A>T (hg38)
PubMed: PMID:3348204
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225604A>T , CM000673.2:g.5225604A>T GRCh38
NC_000011.9:g.5246834A>T , CM000673.1:g.5246834A>T GRCh37
NC_000011.8:g.5203410A>T NCBI36
NG_000007.3:g.72012T>A
NG_059281.1:g.6468T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.438T>A ENSP00000494175.1:p.Tyr146Ter
ENST00000335295.4:c.438T>A MANE Select ENSP00000333994.3:p.Tyr146Ter
ENST00000633227.1:c.*254T>A ENSP00000488004.1:n.*254T>A
NM_000518.4:c.438T>A NP_000509.1:p.Tyr146Ter
NM_000518.5:c.438T>A MANE Select NP_000509.1:p.Tyr146Ter
Search 100 bp 5'
Search 100 bp 3'