Canonical Allele Identifier: CA302929

Gene: SGCD

Linked Data

• ClinVar Variation Id: 196256
• ClinVar RCV Id: RCV000211553 ; RCV000666333 ; RCV000724012 ; RCV001043670 ; RCV003233485
• dbSNP Id: rs752548592
• ExAC: 5:155771527 G / A
• gnomAD v2: 5-155771527-G-A
• gnomAD v3: 5-156344517-G-A
• gnomAD v4: 5-156344517-G-A
• COSMIC: COSM1265434 ; COSM4345912
• MyVariant Identifiers: chr5:g.155771527G>A (hg19) ; chr5:g.156344517G>A (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344517G>A , CM000667.2:g.156344517G>A	GRCh38
NC_000005.9:g.155771527G>A , CM000667.1:g.155771527G>A	GRCh37
NC_000005.8:g.155704105G>A	NCBI36
NG_008693.2:g.479174G>A , LRG_205:g.479174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.32G>A MANE Select	ENSP00000338343.4:p.Arg11Gln
ENST00000337851.8:c.32G>A	ENSP00000338343.4:p.Arg11Gln
ENST00000435422.7:c.29G>A	ENSP00000403003.2:p.Arg10Gln
ENST00000517913.5:c.32G>A	ENSP00000429378.1:p.Arg11Gln
ENST00000524347.2:c.32G>A	ENSP00000430794.1:p.Arg11Gln
NM_000337.5:c.32G>A , LRG_205t1:c.32G>A	NP_000328.2:p.Arg11Gln
NM_001128209.1:c.29G>A	NP_001121681.1:p.Arg10Gln
NM_172244.2:c.32G>A	NP_758447.1:p.Arg11Gln
XM_005265966.3:c.32G>A	XP_005266023.1:p.Arg11Gln
XM_005265967.1:c.32G>A	XP_005266024.1:p.Arg11Gln
XM_006714911.2:c.32G>A	XP_006714974.1:p.Arg11Gln
XM_011534621.1:c.29G>A	XP_011532923.1:p.Arg10Gln
XR_941123.1:n.254+2936C>T
XM_005265966.5:c.32G>A	XP_005266023.1:p.Arg11Gln
XM_005265967.2:c.32G>A	XP_005266024.1:p.Arg11Gln
XM_011534621.2:c.29G>A	XP_011532923.1:p.Arg10Gln
XM_017009723.2:c.32G>A	XP_016865212.1:p.Arg11Gln
XM_017009724.1:c.32G>A	XP_016865213.1:p.Arg11Gln
NM_001128209.2:c.29G>A	NP_001121681.1:p.Arg10Gln
NM_172244.3:c.32G>A	NP_758447.1:p.Arg11Gln
NM_000337.6:c.32G>A MANE Select	NP_000328.2:p.Arg11Gln