Canonical Allele Identifier: CA356876096
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.670G>C MANE Select ENSP00000370839.6:p.Ala224Pro
ENST00000381431.9:c.670G>C ENSP00000370839.5:p.Ala224Pro
NM_000232.4:c.670G>C , LRG_204t1:c.670G>C NP_000223.1:p.Ala224Pro
XM_006714049.2:c.373G>C XP_006714112.1:p.Ala125Pro
XM_011534403.1:c.460G>C XP_011532705.1:p.Ala154Pro
XM_011534404.1:c.373G>C XP_011532706.1:p.Ala125Pro
NM_000232.5:c.670G>C MANE Select NP_000223.1:p.Ala224Pro