Canonical Allele Identifier: CA2918442

Gene: SGCB

Linked Data

• dbSNP Id: rs770815543
• ExAC: 4:52895996 C / T
• gnomAD v4: 4-52029830-C-T
• MyVariant Identifiers: chr4:g.52895996C>T (hg19) ; chr4:g.52029830C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029830C>T , CM000666.2:g.52029830C>T	GRCh38
NC_000004.11:g.52895996C>T , CM000666.1:g.52895996C>T	GRCh37
NC_000004.10:g.52590753C>T	NCBI36
NG_008891.1:g.13490G>A , LRG_204:g.13490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.277G>A MANE Select	ENSP00000370839.6:p.Gly93Arg
ENST00000381431.9:c.277G>A	ENSP00000370839.5:p.Gly93Arg
ENST00000506357.5:c.360G>A
ENST00000514133.1:c.354G>A	ENSP00000425818.1:n.354G>A
NM_000232.4:c.277G>A , LRG_204t1:c.277G>A	NP_000223.1:p.Gly93Arg
XM_006714049.2:c.-21G>A	XP_006714112.1:n.-21G>A
XM_011534403.1:c.67G>A	XP_011532705.1:p.Gly23Arg
XM_011534404.1:c.-21G>A	XP_011532706.1:n.-21G>A
NM_000232.5:c.277G>A MANE Select	NP_000223.1:p.Gly93Arg