Canonical Allele Identifier: CA356877132
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029683G>T , CM000666.2:g.52029683G>T GRCh38
NC_000004.11:g.52895849G>T , CM000666.1:g.52895849G>T GRCh37
NC_000004.10:g.52590606G>T NCBI36
NG_008891.1:g.13637C>A , LRG_204:g.13637C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.424C>A MANE Select ENSP00000370839.6:p.Gln142Lys
ENST00000381431.9:c.424C>A ENSP00000370839.5:p.Gln142Lys
ENST00000506357.5:c.507C>A
ENST00000514133.1:c.501C>A ENSP00000425818.1:n.501C>A
NM_000232.4:c.424C>A , LRG_204t1:c.424C>A NP_000223.1:p.Gln142Lys
XM_006714049.2:c.127C>A XP_006714112.1:p.Gln43Lys
XM_011534403.1:c.214C>A XP_011532705.1:p.Gln72Lys
XM_011534404.1:c.127C>A XP_011532706.1:p.Gln43Lys
NM_000232.5:c.424C>A MANE Select NP_000223.1:p.Gln142Lys