Canonical Allele Identifier: CA3530438

Gene: SGCD

Linked Data

• ClinVar Variation Id: 506908
• ClinVar RCV Id: RCV000616866 ; RCV001156232 ; RCV002062867
• dbSNP Id: rs538229806
• ExAC: 5:155756603 G / A
• gnomAD v2: 5-155756603-G-A
• gnomAD v3: 5-156329593-G-A
• gnomAD v4: 5-156329593-G-A
• MyVariant Identifiers: chr5:g.155756603G>A (hg19) ; chr5:g.156329593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156329593G>A , CM000667.2:g.156329593G>A	GRCh38
NC_000005.9:g.155756603G>A , CM000667.1:g.155756603G>A	GRCh37
NC_000005.8:g.155689181G>A	NCBI36
NG_008693.2:g.464250G>A , LRG_205:g.464250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.3+14G>A MANE Select	ENSP00000338343.4:n.3+14G>A
ENST00000337851.8:c.3+14G>A	ENSP00000338343.4:n.3+14G>A
ENST00000435422.7:c.-1+2361G>A	ENSP00000403003.2:n.-1+2361G>A
ENST00000517913.5:c.3+14G>A	ENSP00000429378.1:n.3+14G>A
ENST00000524347.2:c.3+14G>A	ENSP00000430794.1:n.3+14G>A
NM_000337.5:c.3+14G>A , LRG_205t1:c.3+14G>A	NP_000328.2:n.3+14G>A
NM_001128209.1:c.-1+2361G>A	NP_001121681.1:n.-1+2361G>A
NM_172244.2:c.3+14G>A	NP_758447.1:n.3+14G>A
XM_005265966.3:c.3+14G>A	XP_005266023.1:n.3+14G>A
XM_005265967.1:c.3+14G>A	XP_005266024.1:n.3+14G>A
XM_006714911.2:c.3+14G>A	XP_006714974.1:n.3+14G>A
XM_011534621.1:c.1-14896G>A	XP_011532923.1:n.1-14896G>A
XR_941123.1:n.254+17860C>T
XM_005265966.5:c.3+14G>A	XP_005266023.1:n.3+14G>A
XM_005265967.2:c.3+14G>A	XP_005266024.1:n.3+14G>A
XM_011534621.2:c.1-14896G>A	XP_011532923.1:n.1-14896G>A
XM_017009723.2:c.3+14G>A	XP_016865212.1:n.3+14G>A
XM_017009724.1:c.3+14G>A	XP_016865213.1:n.3+14G>A
NM_001128209.2:c.-1+2361G>A	NP_001121681.1:n.-1+2361G>A
NM_172244.3:c.3+14G>A	NP_758447.1:n.3+14G>A
NM_000337.6:c.3+14G>A MANE Select	NP_000328.2:n.3+14G>A