Canonical Allele Identifier: CA145903

Gene: SGCG

Linked Data

• ClinVar Variation Id: 92655
• ClinVar RCV Id: RCV000078405 ; RCV000270116 ; RCV000325049 ; RCV001094097
• dbSNP Id: rs17314986
• ExAC: 13:23824818 G / A
• gnomAD v2: 13-23824818-G-A
• gnomAD v3: 13-23250679-G-A
• gnomAD v4: 13-23250679-G-A
• MyVariant Identifiers: chr13:g.23824818G>A (hg19) ; chr13:g.23250679G>A (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250679G>A , CM000675.2:g.23250679G>A	GRCh38
NC_000013.10:g.23824818G>A , CM000675.1:g.23824818G>A	GRCh37
NC_000013.9:g.22722818G>A	NCBI36
NG_008759.1:g.74759G>A , LRG_207:g.74759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.347G>A MANE Select	ENSP00000218867.3:p.Arg116His
ENST00000218867.3:c.347G>A	ENSP00000218867.3:p.Arg116His
NM_000231.2:c.347G>A , LRG_207t1:c.347G>A	NP_000222.1:p.Arg116His
XM_005266505.2:c.347G>A	XP_005266562.1:p.Arg116His
XM_006719861.2:c.401G>A	XP_006719924.1:p.Arg134His
XM_006719861.3:c.401G>A	XP_006719924.1:p.Arg134His
XM_024449397.1:c.347G>A	XP_024305165.1:p.Arg116His
NM_000231.3:c.347G>A MANE Select	NP_000222.2:p.Arg116His
NM_001378244.1:c.401G>A	NP_001365173.1:p.Arg134His
NM_001378245.1:c.347G>A	NP_001365174.1:p.Arg116His
NM_001378246.1:c.347G>A	NP_001365175.1:p.Arg116His