Canonical Allele Identifier: CA356877333
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52029779A>C , CM000666.2:g.52029779A>C GRCh38
NC_000004.11:g.52895945A>C , CM000666.1:g.52895945A>C GRCh37
NC_000004.10:g.52590702A>C NCBI36
NG_008891.1:g.13541T>G , LRG_204:g.13541T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.328T>G MANE Select ENSP00000370839.6:p.Phe110Val
ENST00000381431.9:c.328T>G ENSP00000370839.5:p.Phe110Val
ENST00000506357.5:c.411T>G
ENST00000514133.1:c.405T>G ENSP00000425818.1:n.405T>G
NM_000232.4:c.328T>G , LRG_204t1:c.328T>G NP_000223.1:p.Phe110Val
XM_006714049.2:c.31T>G XP_006714112.1:p.Phe11Val
XM_011534403.1:c.118T>G XP_011532705.1:p.Phe40Val
XM_011534404.1:c.31T>G XP_011532706.1:p.Phe11Val
NM_000232.5:c.328T>G MANE Select NP_000223.1:p.Phe110Val