Canonical Allele Identifier: CA6909642

Gene: SGCG

Linked Data

• ClinVar Variation Id: 1636468
• ClinVar RCV Id: RCV002128386
• dbSNP Id: rs777873668
• ExAC: 13:23824792 A / C
• gnomAD v2: 13-23824792-A-C
• MyVariant Identifiers: chr13:g.23824792A>C (hg19) ; chr13:g.23250653A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250653A>C , CM000675.2:g.23250653A>C	GRCh38
NC_000013.10:g.23824792A>C , CM000675.1:g.23824792A>C	GRCh37
NC_000013.9:g.22722792A>C	NCBI36
NG_008759.1:g.74733A>C , LRG_207:g.74733A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.321A>C MANE Select	ENSP00000218867.3:p.Ser107=
ENST00000218867.3:c.321A>C	ENSP00000218867.3:p.Ser107=
NM_000231.2:c.321A>C , LRG_207t1:c.321A>C	NP_000222.1:p.Ser107=
XM_005266505.2:c.321A>C	XP_005266562.1:p.Ser107=
XM_006719861.2:c.375A>C	XP_006719924.1:p.Ser125=
XM_006719861.3:c.375A>C	XP_006719924.1:p.Ser125=
XM_024449397.1:c.321A>C	XP_024305165.1:p.Ser107=
NM_000231.3:c.321A>C MANE Select	NP_000222.2:p.Ser107=
NM_001378244.1:c.375A>C	NP_001365173.1:p.Ser125=
NM_001378245.1:c.321A>C	NP_001365174.1:p.Ser107=
NM_001378246.1:c.321A>C	NP_001365175.1:p.Ser107=