Canonical Allele Identifier: CA142616

Gene: SGCD

Linked Data

• ClinVar Variation Id: 48114
• ClinVar RCV Id: RCV000041400 ; RCV000262050 ; RCV000354555 ; RCV001682738 ; RCV003233091 ; RCV003233090
• dbSNP Id: rs13170573
• gnomAD v2: 5-155754192-C-G
• gnomAD v3: 5-156327182-C-G
• gnomAD v4: 5-156327182-C-G
• MyVariant Identifiers: chr5:g.155754192C>G (hg19) ; chr5:g.156327182C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156327182C>G , CM000667.2:g.156327182C>G	GRCh38
NC_000005.9:g.155754192C>G , CM000667.1:g.155754192C>G	GRCh37
NC_000005.8:g.155686770C>G	NCBI36
NG_008693.2:g.461839C>G , LRG_205:g.461839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.-94C>G MANE Select	ENSP00000338343.4:n.-94C>G
ENST00000337851.8:c.-94C>G	ENSP00000338343.4:n.-94C>G
ENST00000435422.7:c.-51C>G	ENSP00000403003.2:n.-51C>G
ENST00000517913.5:c.-43-2352C>G	ENSP00000429378.1:n.-43-2352C>G
ENST00000524347.2:c.-94C>G	ENSP00000430794.1:n.-94C>G
NM_000337.5:c.-94C>G , LRG_205t1:c.-94C>G	NP_000328.2:n.-94C>G
NM_001128209.1:c.-51C>G	NP_001121681.1:n.-51C>G
NM_172244.2:c.-94C>G	NP_758447.1:n.-94C>G
XM_005265967.1:c.-94C>G	XP_005266024.1:n.-94C>G
XM_006714911.2:c.-43-2352C>G	XP_006714974.1:n.-43-2352C>G
XM_011534621.1:c.1-17307C>G	XP_011532923.1:n.1-17307C>G
XR_941123.1:n.254+20271G>C
XM_005265967.2:c.-94C>G	XP_005266024.1:n.-94C>G
XM_011534621.2:c.1-17307C>G	XP_011532923.1:n.1-17307C>G
XM_017009723.2:c.-43-2352C>G	XP_016865212.1:n.-43-2352C>G
XM_017009724.1:c.-43-2352C>G	XP_016865213.1:n.-43-2352C>G
NM_001128209.2:c.-51C>G	NP_001121681.1:n.-51C>G
NM_172244.3:c.-94C>G	NP_758447.1:n.-94C>G
NM_000337.6:c.-94C>G MANE Select	NP_000328.2:n.-94C>G