Canonical Allele Identifier: CA177973

Gene: SGCD

Linked Data

• ClinVar Variation Id: 165222
• ClinVar RCV Id: RCV000151867 ; RCV000292947 ; RCV000350187 ; RCV001536642
• dbSNP Id: rs727503419
• gnomAD v2: 5-155753934-T-C
• gnomAD v3: 5-156326924-T-C
• gnomAD v4: 5-156326924-T-C
• MyVariant Identifiers: chr5:g.155753934T>C (hg19) ; chr5:g.156326924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156326924T>C , CM000667.2:g.156326924T>C	GRCh38
NC_000005.9:g.155753934T>C , CM000667.1:g.155753934T>C	GRCh37
NC_000005.8:g.155686512T>C	NCBI36
NG_008693.2:g.461581T>C , LRG_205:g.461581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.8:c.-352T>C	ENSP00000338343.4:n.-352T>C
ENST00000435422.7:c.-309T>C	ENSP00000403003.2:n.-309T>C
ENST00000517913.5:c.-43-2610T>C	ENSP00000429378.1:n.-43-2610T>C
NM_000337.5:c.-352T>C , LRG_205t1:c.-352T>C	NP_000328.2:n.-352T>C
NM_001128209.1:c.-309T>C	NP_001121681.1:n.-309T>C
NM_172244.2:c.-352T>C	NP_758447.1:n.-352T>C
XM_006714911.2:c.-43-2610T>C	XP_006714974.1:n.-43-2610T>C
XM_011534621.1:c.1-17565T>C	XP_011532923.1:n.1-17565T>C
XR_941123.1:n.254+20529A>G
XM_011534621.2:c.1-17565T>C	XP_011532923.1:n.1-17565T>C
XM_017009723.2:c.-43-2610T>C	XP_016865212.1:n.-43-2610T>C
XM_017009724.1:c.-43-2610T>C	XP_016865213.1:n.-43-2610T>C