Canonical Allele Identifier: CA308779

Gene: SGCD

Linked Data

• ClinVar Variation Id: 202085
• ClinVar RCV Id: RCV000183899 ; RCV000331989 ; RCV000389000 ; RCV000639556 ; RCV001170139 ; RCV001701634
• dbSNP Id: rs549319429
• ExAC: 5:155771510 G / C
• gnomAD v2: 5-155771510-G-C
• gnomAD v3: 5-156344500-G-C
• gnomAD v4: 5-156344500-G-C
• MyVariant Identifiers: chr5:g.155771510G>C (hg19) ; chr5:g.156344500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344500G>C , CM000667.2:g.156344500G>C	GRCh38
NC_000005.9:g.155771510G>C , CM000667.1:g.155771510G>C	GRCh37
NC_000005.8:g.155704088G>C	NCBI36
NG_008693.2:g.479157G>C , LRG_205:g.479157G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.15G>C MANE Select	ENSP00000338343.4:p.Glu5Asp
ENST00000337851.8:c.15G>C	ENSP00000338343.4:p.Glu5Asp
ENST00000435422.7:c.12G>C	ENSP00000403003.2:p.Glu4Asp
ENST00000517913.5:c.15G>C	ENSP00000429378.1:p.Glu5Asp
ENST00000524347.2:c.15G>C	ENSP00000430794.1:p.Glu5Asp
NM_000337.5:c.15G>C , LRG_205t1:c.15G>C	NP_000328.2:p.Glu5Asp
NM_001128209.1:c.12G>C	NP_001121681.1:p.Glu4Asp
NM_172244.2:c.15G>C	NP_758447.1:p.Glu5Asp
XM_005265966.3:c.15G>C	XP_005266023.1:p.Glu5Asp
XM_005265967.1:c.15G>C	XP_005266024.1:p.Glu5Asp
XM_006714911.2:c.15G>C	XP_006714974.1:p.Glu5Asp
XM_011534621.1:c.12G>C	XP_011532923.1:p.Glu4Asp
XR_941123.1:n.254+2953C>G
XM_005265966.5:c.15G>C	XP_005266023.1:p.Glu5Asp
XM_005265967.2:c.15G>C	XP_005266024.1:p.Glu5Asp
XM_011534621.2:c.12G>C	XP_011532923.1:p.Glu4Asp
XM_017009723.2:c.15G>C	XP_016865212.1:p.Glu5Asp
XM_017009724.1:c.15G>C	XP_016865213.1:p.Glu5Asp
NM_001128209.2:c.12G>C	NP_001121681.1:p.Glu4Asp
NM_172244.3:c.15G>C	NP_758447.1:p.Glu5Asp
NM_000337.6:c.15G>C MANE Select	NP_000328.2:p.Glu5Asp