Canonical Allele Identifier: CA132475

Gene: SGCD

Linked Data

• ClinVar Variation Id: 43358
• ClinVar RCV Id: RCV000036266 ; RCV000172107 ; RCV000365095 ; RCV000404763 ; RCV000584814 ; RCV001084187 ; RCV001293129 ; RCV003944896
• dbSNP Id: rs397516338
• ExAC: 5:156186376 A / G
• gnomAD v2: 5-156186376-A-G
• gnomAD v3: 5-156759365-A-G
• gnomAD v4: 5-156759365-A-G
• MyVariant Identifiers: chr5:g.156186376A>G (hg19) ; chr5:g.156759365A>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156759365A>G , CM000667.2:g.156759365A>G	GRCh38
NC_000005.9:g.156186376A>G , CM000667.1:g.156186376A>G	GRCh37
NC_000005.8:g.156118954A>G	NCBI36
NG_008693.2:g.894023A>G , LRG_205:g.894023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.848A>G MANE Select	ENSP00000338343.4:p.Gln283Arg
ENST00000337851.8:c.848A>G	ENSP00000338343.4:p.Gln283Arg
ENST00000435422.7:c.845A>G	ENSP00000403003.2:p.Gln282Arg
NM_000337.5:c.848A>G , LRG_205t1:c.848A>G	NP_000328.2:p.Gln283Arg
NM_001128209.1:c.845A>G	NP_001121681.1:p.Gln282Arg
XM_005265966.3:c.848A>G	XP_005266023.1:p.Gln283Arg
XM_006714911.2:c.848A>G	XP_006714974.1:p.Gln283Arg
XM_011534621.1:c.845A>G	XP_011532923.1:p.Gln282Arg
XM_005265966.5:c.848A>G	XP_005266023.1:p.Gln283Arg
XM_011534621.2:c.845A>G	XP_011532923.1:p.Gln282Arg
XM_017009723.2:c.848A>G	XP_016865212.1:p.Gln283Arg
XM_017009724.1:c.848A>G	XP_016865213.1:p.Gln283Arg
NM_001128209.2:c.845A>G	NP_001121681.1:p.Gln282Arg
NM_000337.6:c.848A>G MANE Select	NP_000328.2:p.Gln283Arg