Canonical Allele Identifier: CA6909567

Gene: SGCG

Linked Data

• ClinVar Variation Id: 1159505
• ClinVar RCV Id: RCV001503294
• dbSNP Id: rs778502285
• ExAC: 13:23777932 G / A
• gnomAD v4: 13-23203793-G-A
• MyVariant Identifiers: chr13:g.23777932G>A (hg19) ; chr13:g.23203793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23203793G>A , CM000675.2:g.23203793G>A	GRCh38
NC_000013.10:g.23777932G>A , CM000675.1:g.23777932G>A	GRCh37
NC_000013.9:g.22675932G>A	NCBI36
NG_008759.1:g.27873G>A , LRG_207:g.27873G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218867.4:c.99G>A MANE Select	ENSP00000218867.3:p.Lys33=
ENST00000218867.3:c.99G>A	ENSP00000218867.3:p.Lys33=
NM_000231.2:c.99G>A , LRG_207t1:c.99G>A	NP_000222.1:p.Lys33=
XM_005266505.2:c.99G>A	XP_005266562.1:p.Lys33=
XM_006719861.2:c.153G>A	XP_006719924.1:p.Lys51=
XM_006719861.3:c.153G>A	XP_006719924.1:p.Lys51=
XM_024449397.1:c.99G>A	XP_024305165.1:p.Lys33=
NM_000231.3:c.99G>A MANE Select	NP_000222.2:p.Lys33=
NM_001378244.1:c.153G>A	NP_001365173.1:p.Lys51=
NM_001378245.1:c.99G>A	NP_001365174.1:p.Lys33=
NM_001378246.1:c.99G>A	NP_001365175.1:p.Lys33=