Canonical Allele Identifier: CA379280152

Linked Data

gnomAD v4: 11-5249534-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5249534G>C , CM000673.2:g.5249534G>C GRCh38
NC_000011.9:g.5270764G>C , CM000673.1:g.5270764G>C GRCh37
NC_000011.8:g.5227340G>C NCBI36
NG_000007.3:g.48082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330597.5:c.149C>G (HBG1) MANE Select ENSP00000327431.4:p.Ser50Cys
ENST00000642908.1:c.316-1047C>G ENSP00000495346.1:n.316-1047C>G
ENST00000647543.1:c.379-1047C>G ENSP00000496470.1:n.379-1047C>G
ENST00000648735.1:n.200C>G (HBG1)
ENST00000330597.3:c.149C>G (HBG1) ENSP00000327431.3:p.Ser50Cys
ENST00000620888.4:c.316-1047C>G (HBG2) ENSP00000479637.1:n.316-1047C>G
ENST00000623781.1:c.206G>C ENSP00000485381.1:p.Gly69Ala
ENST00000632727.1:c.*18C>G (HBG1) ENSP00000488759.1:n.*18C>G
NM_000559.2:c.149C>G (HBG1) NP_000550.2:p.Ser50Cys
NM_000559.3:c.149C>G (HBG1) MANE Select NP_000550.2:p.Ser50Cys