Canonical Allele Identifier: CA142613

Gene: SGCD

Linked Data

• ClinVar Variation Id: 48111
• ClinVar RCV Id: RCV000041397 ; RCV000344278 ; RCV000404413 ; RCV001668172 ; RCV003233089 ; RCV003233088
• dbSNP Id: rs7725121
• gnomAD v2: 5-155753983-A-T
• gnomAD v3: 5-156326973-A-T
• gnomAD v4: 5-156326973-A-T
• MyVariant Identifiers: chr5:g.155753983A>T (hg19) ; chr5:g.156326973A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156326973A>T , CM000667.2:g.156326973A>T	GRCh38
NC_000005.9:g.155753983A>T , CM000667.1:g.155753983A>T	GRCh37
NC_000005.8:g.155686561A>T	NCBI36
NG_008693.2:g.461630A>T , LRG_205:g.461630A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.8:c.-303A>T	ENSP00000338343.4:n.-303A>T
ENST00000435422.7:c.-260A>T	ENSP00000403003.2:n.-260A>T
ENST00000517913.5:c.-43-2561A>T	ENSP00000429378.1:n.-43-2561A>T
ENST00000524347.2:c.-303A>T	ENSP00000430794.1:n.-303A>T
NM_000337.5:c.-303A>T , LRG_205t1:c.-303A>T	NP_000328.2:n.-303A>T
NM_001128209.1:c.-260A>T	NP_001121681.1:n.-260A>T
NM_172244.2:c.-303A>T	NP_758447.1:n.-303A>T
XM_006714911.2:c.-43-2561A>T	XP_006714974.1:n.-43-2561A>T
XM_011534621.1:c.1-17516A>T	XP_011532923.1:n.1-17516A>T
XR_941123.1:n.254+20480T>A
XM_011534621.2:c.1-17516A>T	XP_011532923.1:n.1-17516A>T
XM_017009723.2:c.-43-2561A>T	XP_016865212.1:n.-43-2561A>T
XM_017009724.1:c.-43-2561A>T	XP_016865213.1:n.-43-2561A>T