Canonical Allele Identifier: CA356875756
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027979C>A , CM000666.2:g.52027979C>A GRCh38
NC_000004.11:g.52894145C>A , CM000666.1:g.52894145C>A GRCh37
NC_000004.10:g.52588902C>A NCBI36
NG_008891.1:g.15341G>T , LRG_204:g.15341G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.742G>T MANE Select ENSP00000370839.6:p.Glu248Ter
ENST00000381431.9:c.742G>T ENSP00000370839.5:p.Glu248Ter
NM_000232.4:c.742G>T , LRG_204t1:c.742G>T NP_000223.1:p.Glu248Ter
XM_006714049.2:c.445G>T XP_006714112.1:p.Glu149Ter
XM_011534403.1:c.532G>T XP_011532705.1:p.Glu178Ter
XM_011534404.1:c.445G>T XP_011532706.1:p.Glu149Ter
NM_000232.5:c.742G>T MANE Select NP_000223.1:p.Glu248Ter