Canonical Allele Identifier: CA379263450
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.5271087T>G (hg19) chr11:g.5249857T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249857T>G , CM000673.2:g.5249857T>G GRCh38
NC_000011.9:g.5271087T>G , CM000673.1:g.5271087T>G GRCh37
NC_000011.8:g.5227663T>G NCBI36
NG_000007.3:g.47759A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.-53A>C (HBG1) MANE Select ENSP00000327431.4:n.-53A>C
ENST00000642908.1:c.316-1370A>C ENSP00000495346.1:n.316-1370A>C
ENST00000647543.1:c.379-1370A>C ENSP00000496470.1:n.379-1370A>C
ENST00000330597.3:c.-53A>C (HBG1) ENSP00000327431.3:n.-53A>C
ENST00000620888.4:c.316-1370A>C (HBG2) ENSP00000479637.1:n.316-1370A>C
ENST00000623781.1:c.410T>G ENSP00000485381.1:p.Val137Gly
NM_000559.2:c.-53A>C (HBG1) NP_000550.2:n.-53A>C
NM_000559.3:c.-53A>C (HBG1) MANE Select NP_000550.2:n.-53A>C
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