Canonical Allele Identifier: CA356877202

Gene: SGCB

Linked Data

• dbSNP Id: rs201439705
• gnomAD v3: 4-52029715-C-A
• gnomAD v4: 4-52029715-C-A
• MyVariant Identifiers: chr4:g.52895881C>A (hg19) ; chr4:g.52029715C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52029715C>A , CM000666.2:g.52029715C>A	GRCh38
NC_000004.11:g.52895881C>A , CM000666.1:g.52895881C>A	GRCh37
NC_000004.10:g.52590638C>A	NCBI36
NG_008891.1:g.13605G>T , LRG_204:g.13605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.392G>T MANE Select	ENSP00000370839.6:p.Arg131Leu
ENST00000381431.9:c.392G>T	ENSP00000370839.5:p.Arg131Leu
ENST00000506357.5:c.475G>T
ENST00000514133.1:c.469G>T	ENSP00000425818.1:n.469G>T
NM_000232.4:c.392G>T , LRG_204t1:c.392G>T	NP_000223.1:p.Arg131Leu
XM_006714049.2:c.95G>T	XP_006714112.1:p.Arg32Leu
XM_011534403.1:c.182G>T	XP_011532705.1:p.Arg61Leu
XM_011534404.1:c.95G>T	XP_011532706.1:p.Arg32Leu
NM_000232.5:c.392G>T MANE Select	NP_000223.1:p.Arg131Leu