Canonical Allele Identifier: CA934690714
Gene: HBG1 HGNC NCBI
HBG2 HGNC NCBI

Linked Data

gnomAD v3: 11-5249321-T-C
gnomAD v4: 11-5249321-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249321T>C , CM000673.2:g.5249321T>C GRCh38
NC_000011.9:g.5270551T>C , CM000673.1:g.5270551T>C GRCh37
NC_000011.8:g.5227127T>C NCBI36
NG_000007.3:g.48295A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330597.5:c.315+47A>G (HBG1) MANE Select ENSP00000327431.4:n.315+47A>G
ENST00000642908.1:c.316-834A>G ENSP00000495346.1:n.316-834A>G
ENST00000647543.1:c.379-834A>G ENSP00000496470.1:n.379-834A>G
ENST00000648735.1:n.413A>G (HBG1)
ENST00000330597.3:c.315+47A>G (HBG1) ENSP00000327431.3:n.315+47A>G
ENST00000620888.4:c.316-834A>G (HBG2) ENSP00000479637.1:n.316-834A>G
ENST00000623781.1:c.43-50T>C ENSP00000485381.1:n.43-50T>C
ENST00000632727.1:c.*184+47A>G (HBG1) ENSP00000488759.1:n.*184+47A>G
NM_000559.2:c.315+47A>G (HBG1) NP_000550.2:n.315+47A>G
NM_000559.3:c.315+47A>G (HBG1) MANE Select NP_000550.2:n.315+47A>G
Search 100 bp 5'
Search 100 bp 3'