Canonical Allele Identifier: CA356876100
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028051C>T , CM000666.2:g.52028051C>T GRCh38
NC_000004.11:g.52894217C>T , CM000666.1:g.52894217C>T GRCh37
NC_000004.10:g.52588974C>T NCBI36
NG_008891.1:g.15269G>A , LRG_204:g.15269G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.670G>A MANE Select ENSP00000370839.6:p.Ala224Thr
ENST00000381431.9:c.670G>A ENSP00000370839.5:p.Ala224Thr
NM_000232.4:c.670G>A , LRG_204t1:c.670G>A NP_000223.1:p.Ala224Thr
XM_006714049.2:c.373G>A XP_006714112.1:p.Ala125Thr
XM_011534403.1:c.460G>A XP_011532705.1:p.Ala154Thr
XM_011534404.1:c.373G>A XP_011532706.1:p.Ala125Thr
NM_000232.5:c.670G>A MANE Select NP_000223.1:p.Ala224Thr