Canonical Allele Identifier: CA356877332
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000381431.10:c.328T>C MANE Select ENSP00000370839.6:p.Phe110Leu
ENST00000381431.9:c.328T>C ENSP00000370839.5:p.Phe110Leu
ENST00000506357.5:c.411T>C
ENST00000514133.1:c.405T>C ENSP00000425818.1:n.405T>C
NM_000232.4:c.328T>C , LRG_204t1:c.328T>C NP_000223.1:p.Phe110Leu
XM_006714049.2:c.31T>C XP_006714112.1:p.Phe11Leu
XM_011534403.1:c.118T>C XP_011532705.1:p.Phe40Leu
XM_011534404.1:c.31T>C XP_011532706.1:p.Phe11Leu
NM_000232.5:c.328T>C MANE Select NP_000223.1:p.Phe110Leu