Canonical Allele Identifier: CA387501650

Gene: SGCG

Linked Data

• dbSNP Id: rs1242431990
• gnomAD v2: 13-23824834-G-C
• MyVariant Identifiers: chr13:g.23824834G>C (hg19) ; chr13:g.23250695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23250695G>C , CM000675.2:g.23250695G>C	GRCh38
NC_000013.10:g.23824834G>C , CM000675.1:g.23824834G>C	GRCh37
NC_000013.9:g.22722834G>C	NCBI36
NG_008759.1:g.74775G>C , LRG_207:g.74775G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218867.4:c.363G>C MANE Select	ENSP00000218867.3:p.Glu121Asp
ENST00000218867.3:c.363G>C	ENSP00000218867.3:p.Glu121Asp
NM_000231.2:c.363G>C , LRG_207t1:c.363G>C	NP_000222.1:p.Glu121Asp
XM_005266505.2:c.363G>C	XP_005266562.1:p.Glu121Asp
XM_006719861.2:c.417G>C	XP_006719924.1:p.Glu139Asp
XM_006719861.3:c.417G>C	XP_006719924.1:p.Glu139Asp
XM_024449397.1:c.363G>C	XP_024305165.1:p.Glu121Asp
NM_000231.3:c.363G>C MANE Select	NP_000222.2:p.Glu121Asp
NM_001378244.1:c.417G>C	NP_001365173.1:p.Glu139Asp
NM_001378245.1:c.363G>C	NP_001365174.1:p.Glu121Asp
NM_001378246.1:c.363G>C	NP_001365175.1:p.Glu121Asp