Canonical Allele Identifier: CA2573052468

Gene: SGCD

Linked Data

• ClinVar Variation Id: 1180694
• ClinVar RCV Id: RCV001814423
• dbSNP Id: rs2113389287

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594971dup , CM000667.2:g.156594971dup	GRCh38
NC_000005.9:g.156021981dup , CM000667.1:g.156021981dup	GRCh37
NC_000005.8:g.155954559dup	NCBI36
NG_008693.2:g.729628dup , LRG_205:g.729628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.422dup MANE Select	ENSP00000338343.4:p.Thr143AsnfsTer13
ENST00000337851.8:c.422dup	ENSP00000338343.4:p.Thr143AsnfsTer13
ENST00000435422.7:c.419dup	ENSP00000403003.2:p.Thr142AsnfsTer13
ENST00000517913.5:c.422dup	ENSP00000429378.1:p.Thr143AsnfsTer13
NM_000337.5:c.422dup , LRG_205t1:c.422dup	NP_000328.2:p.Thr143AsnfsTer13
NM_001128209.1:c.419dup	NP_001121681.1:p.Thr142AsnfsTer13
NM_172244.2:c.422dup	NP_758447.1:p.Thr143AsnfsTer13
XM_005265966.3:c.422dup	XP_005266023.1:p.Thr143AsnfsTer13
XM_005265967.1:c.422dup	XP_005266024.1:p.Thr143AsnfsTer13
XM_006714911.2:c.422dup	XP_006714974.1:p.Thr143AsnfsTer13
XM_011534621.1:c.419dup	XP_011532923.1:p.Thr142AsnfsTer13
XM_005265966.5:c.422dup	XP_005266023.1:p.Thr143AsnfsTer13
XM_005265967.2:c.422dup	XP_005266024.1:p.Thr143AsnfsTer13
XM_011534621.2:c.419dup	XP_011532923.1:p.Thr142AsnfsTer13
XM_017009723.2:c.422dup	XP_016865212.1:p.Thr143AsnfsTer13
XM_017009724.1:c.422dup	XP_016865213.1:p.Thr143AsnfsTer13
NM_001128209.2:c.419dup	NP_001121681.1:p.Thr142AsnfsTer13
NM_172244.3:c.422dup	NP_758447.1:p.Thr143AsnfsTer13
NM_000337.6:c.422dup MANE Select	NP_000328.2:p.Thr143AsnfsTer13