Canonical Allele Identifier: CA356875752
Gene: SGCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52027977C>G , CM000666.2:g.52027977C>G GRCh38
NC_000004.11:g.52894143C>G , CM000666.1:g.52894143C>G GRCh37
NC_000004.10:g.52588900C>G NCBI36
NG_008891.1:g.15343G>C , LRG_204:g.15343G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.744G>C MANE Select ENSP00000370839.6:p.Glu248Asp
ENST00000381431.9:c.744G>C ENSP00000370839.5:p.Glu248Asp
NM_000232.4:c.744G>C , LRG_204t1:c.744G>C NP_000223.1:p.Glu248Asp
XM_006714049.2:c.447G>C XP_006714112.1:p.Glu149Asp
XM_011534403.1:c.534G>C XP_011532705.1:p.Glu178Asp
XM_011534404.1:c.447G>C XP_011532706.1:p.Glu149Asp
NM_000232.5:c.744G>C MANE Select NP_000223.1:p.Glu248Asp