Canonical Allele Identifier: CA356876293
Gene: SGCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2690700
ClinVar RCV Id: RCV003486342

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.52028091G>T , CM000666.2:g.52028091G>T GRCh38
NC_000004.11:g.52894257G>T , CM000666.1:g.52894257G>T GRCh37
NC_000004.10:g.52589014G>T NCBI36
NG_008891.1:g.15229C>A , LRG_204:g.15229C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000381431.10:c.630C>A MANE Select ENSP00000370839.6:p.Ser210Arg
ENST00000381431.9:c.630C>A ENSP00000370839.5:p.Ser210Arg
NM_000232.4:c.630C>A , LRG_204t1:c.630C>A NP_000223.1:p.Ser210Arg
XM_006714049.2:c.333C>A XP_006714112.1:p.Ser111Arg
XM_011534403.1:c.420C>A XP_011532705.1:p.Ser140Arg
XM_011534404.1:c.333C>A XP_011532706.1:p.Ser111Arg
NM_000232.5:c.630C>A MANE Select NP_000223.1:p.Ser210Arg