Canonical Allele Identifier: CA356876293

Gene: SGCB

Linked Data

• ClinVar Variation Id: 2690700
• ClinVar RCV Id: RCV003486342
• MyVariant Identifiers: chr4:g.52894257G>T (hg19) ; chr4:g.52028091G>T (hg38)

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