Canonical Allele Identifier: CA302926

Gene: SGCD

Linked Data

• ClinVar Variation Id: 196255
• ClinVar RCV Id: RCV000212998 ; RCV000554394 ; RCV000723938 ; RCV000852562 ; RCV001156233 ; RCV002485153 ; RCV003233484
• dbSNP Id: rs200476861
• ExAC: 5:155771587 G / A
• gnomAD v2: 5-155771587-G-A
• gnomAD v3: 5-156344577-G-A
• gnomAD v4: 5-156344577-G-A
• COSMIC: COSM3246056 ; COSM3975351
• MyVariant Identifiers: chr5:g.155771587G>A (hg19) ; chr5:g.156344577G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344577G>A , CM000667.2:g.156344577G>A	GRCh38
NC_000005.9:g.155771587G>A , CM000667.1:g.155771587G>A	GRCh37
NC_000005.8:g.155704165G>A	NCBI36
NG_008693.2:g.479234G>A , LRG_205:g.479234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.92G>A MANE Select	ENSP00000338343.4:p.Arg31Gln
ENST00000337851.8:c.92G>A	ENSP00000338343.4:p.Arg31Gln
ENST00000435422.7:c.89G>A	ENSP00000403003.2:p.Arg30Gln
ENST00000517913.5:c.92G>A	ENSP00000429378.1:p.Arg31Gln
ENST00000524347.2:c.92G>A	ENSP00000430794.1:p.Arg31Gln
NM_000337.5:c.92G>A , LRG_205t1:c.92G>A	NP_000328.2:p.Arg31Gln
NM_001128209.1:c.89G>A	NP_001121681.1:p.Arg30Gln
NM_172244.2:c.92G>A	NP_758447.1:p.Arg31Gln
XM_005265966.3:c.92G>A	XP_005266023.1:p.Arg31Gln
XM_005265967.1:c.92G>A	XP_005266024.1:p.Arg31Gln
XM_006714911.2:c.92G>A	XP_006714974.1:p.Arg31Gln
XM_011534621.1:c.89G>A	XP_011532923.1:p.Arg30Gln
XR_941123.1:n.254+2876C>T
XM_005265966.5:c.92G>A	XP_005266023.1:p.Arg31Gln
XM_005265967.2:c.92G>A	XP_005266024.1:p.Arg31Gln
XM_011534621.2:c.89G>A	XP_011532923.1:p.Arg30Gln
XM_017009723.2:c.92G>A	XP_016865212.1:p.Arg31Gln
XM_017009724.1:c.92G>A	XP_016865213.1:p.Arg31Gln
NM_001128209.2:c.89G>A	NP_001121681.1:p.Arg30Gln
NM_172244.3:c.92G>A	NP_758447.1:p.Arg31Gln
NM_000337.6:c.92G>A MANE Select	NP_000328.2:p.Arg31Gln