Canonical Allele Identifier: CA10621019

Gene: SGCD

Linked Data

• ClinVar Variation Id: 352330
• ClinVar RCV Id: RCV000303253 ; RCV000360360 ; RCV002488776 ; RCV003233549 ; RCV003233550
• dbSNP Id: rs886060284
• gnomAD v3: 5-156327141-C-T
• gnomAD v4: 5-156327141-C-T
• MyVariant Identifiers: chr5:g.155754151C>T (hg19) ; chr5:g.156327141C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156327141C>T , CM000667.2:g.156327141C>T	GRCh38
NC_000005.9:g.155754151C>T , CM000667.1:g.155754151C>T	GRCh37
NC_000005.8:g.155686729C>T	NCBI36
NG_008693.2:g.461798C>T , LRG_205:g.461798C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.8:c.-135C>T	ENSP00000338343.4:n.-135C>T
ENST00000435422.7:c.-92C>T	ENSP00000403003.2:n.-92C>T
ENST00000517913.5:c.-43-2393C>T	ENSP00000429378.1:n.-43-2393C>T
ENST00000524347.2:c.-135C>T	ENSP00000430794.1:n.-135C>T
NM_000337.5:c.-135C>T , LRG_205t1:c.-135C>T	NP_000328.2:n.-135C>T
NM_001128209.1:c.-92C>T	NP_001121681.1:n.-92C>T
NM_172244.2:c.-135C>T	NP_758447.1:n.-135C>T
XM_006714911.2:c.-43-2393C>T	XP_006714974.1:n.-43-2393C>T
XM_011534621.1:c.1-17348C>T	XP_011532923.1:n.1-17348C>T
XR_941123.1:n.254+20312G>A
XM_011534621.2:c.1-17348C>T	XP_011532923.1:n.1-17348C>T
XM_017009723.2:c.-43-2393C>T	XP_016865212.1:n.-43-2393C>T
XM_017009724.1:c.-43-2393C>T	XP_016865213.1:n.-43-2393C>T