Canonical Allele Identifier: CA356877910
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033495C>T , CM000666.2:g.52033495C>T GRCh38
NC_000004.11:g.52899661C>T , CM000666.1:g.52899661C>T GRCh37
NC_000004.10:g.52594418C>T NCBI36
NG_008891.1:g.9825G>A , LRG_204:g.9825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.179G>A MANE Select ENSP00000370839.6:p.Arg60Lys
ENST00000381431.9:c.179G>A ENSP00000370839.5:p.Arg60Lys
ENST00000506357.5:c.165G>A
ENST00000514133.1:c.146G>A ENSP00000425818.1:p.Arg49Lys
NM_000232.4:c.179G>A , LRG_204t1:c.179G>A NP_000223.1:p.Arg60Lys
XM_006714049.2:c.-229G>A XP_006714112.1:n.-229G>A
XM_011534403.1:c.34-3632G>A XP_011532705.1:n.34-3632G>A
XM_011534404.1:c.-206G>A XP_011532706.1:n.-206G>A
NM_000232.5:c.179G>A MANE Select NP_000223.1:p.Arg60Lys