Canonical Allele Identifier: CA356877848
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52033468A>G , CM000666.2:g.52033468A>G GRCh38
NC_000004.11:g.52899634A>G , CM000666.1:g.52899634A>G GRCh37
NC_000004.10:g.52594391A>G NCBI36
NG_008891.1:g.9852T>C , LRG_204:g.9852T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.206T>C MANE Select ENSP00000370839.6:p.Ile69Thr
ENST00000381431.9:c.206T>C ENSP00000370839.5:p.Ile69Thr
ENST00000506357.5:c.192T>C
ENST00000514133.1:c.173T>C ENSP00000425818.1:p.Ile58Thr
NM_000232.4:c.206T>C , LRG_204t1:c.206T>C NP_000223.1:p.Ile69Thr
XM_006714049.2:c.-202T>C XP_006714112.1:n.-202T>C
XM_011534403.1:c.34-3605T>C XP_011532705.1:n.34-3605T>C
XM_011534404.1:c.-179T>C XP_011532706.1:n.-179T>C
NM_000232.5:c.206T>C MANE Select NP_000223.1:p.Ile69Thr