Canonical Allele Identifier: CA124734
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15103
ClinVar RCV Id: RCV000016257
dbSNP Id: rs33980484
MyVariant Identifiers: chr11:g.5247979T>G (hg19) chr11:g.5226749T>G (hg38)
PubMed: PMID:1122305
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226749T>G , CM000673.2:g.5226749T>G GRCh38
NC_000011.9:g.5247979T>G , CM000673.1:g.5247979T>G GRCh37
NC_000011.8:g.5204555T>G NCBI36
NG_000007.3:g.70867A>C
NG_059281.1:g.5323A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.143A>C ENSP00000494175.1:p.Asp48Ala
ENST00000335295.4:c.143A>C MANE Select ENSP00000333994.3:p.Asp48Ala
ENST00000380315.2:c.143A>C ENSP00000369671.2:p.Asp48Ala
ENST00000475226.1:n.75A>C
ENST00000485743.1:n.194A>C
ENST00000633227.1:c.127A>C ENSP00000488004.1:p.Ile43Leu
NM_000518.4:c.143A>C NP_000509.1:p.Asp48Ala
NM_000518.5:c.143A>C MANE Select NP_000509.1:p.Asp48Ala
Search 100 bp 5'
Search 100 bp 3'