Canonical Allele Identifier: CA124600
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 15016
ClinVar RCV Id: RCV000016156 RCV000030903
dbSNP Id: rs34432567
MyVariant Identifiers: chr11:g.5271015T>C (hg19) chr11:g.5249785T>C (hg38)
PubMed: PMID:6175602 PMID:6197997
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249785T>C , CM000673.2:g.5249785T>C GRCh38
NC_000011.9:g.5271015T>C , CM000673.1:g.5271015T>C GRCh37
NC_000011.8:g.5227591T>C NCBI36
NG_000007.3:g.47831A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.20A>G (HBG1) MANE Select ENSP00000327431.4:p.Glu7Gly
ENST00000642908.1:c.316-1298A>G ENSP00000495346.1:n.316-1298A>G
ENST00000647543.1:c.379-1298A>G ENSP00000496470.1:n.379-1298A>G
ENST00000648735.1:n.71A>G (HBG1)
ENST00000330597.3:c.20A>G (HBG1) ENSP00000327431.3:p.Glu7Gly
ENST00000620888.4:c.316-1298A>G (HBG2) ENSP00000479637.1:n.316-1298A>G
ENST00000623781.1:c.338T>C ENSP00000485381.1:p.Leu113Pro
ENST00000632727.1:c.20A>G (HBG1) ENSP00000488759.1:p.Glu7Gly
NM_000559.2:c.20A>G (HBG1) NP_000550.2:p.Glu7Gly
NM_000559.3:c.20A>G (HBG1) MANE Select NP_000550.2:p.Glu7Gly
Search 100 bp 5'
Search 100 bp 3'