Canonical Allele Identifier: CA2676178492

Gene: SGCD

Linked Data

• ClinVar Variation Id: 2778643
• ClinVar RCV Id: RCV003619893
• gnomAD v4: 5-156594917-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594917C>A , CM000667.2:g.156594917C>A	GRCh38
NC_000005.9:g.156021927C>A , CM000667.1:g.156021927C>A	GRCh37
NC_000005.8:g.155954505C>A	NCBI36
NG_008693.2:g.729574C>A , LRG_205:g.729574C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.383-15C>A MANE Select	ENSP00000338343.4:n.383-15C>A
ENST00000337851.8:c.383-15C>A	ENSP00000338343.4:n.383-15C>A
ENST00000435422.7:c.380-15C>A	ENSP00000403003.2:n.380-15C>A
ENST00000517913.5:c.383-15C>A	ENSP00000429378.1:n.383-15C>A
NM_000337.5:c.383-15C>A , LRG_205t1:c.383-15C>A	NP_000328.2:n.383-15C>A
NM_001128209.1:c.380-15C>A	NP_001121681.1:n.380-15C>A
NM_172244.2:c.383-15C>A	NP_758447.1:n.383-15C>A
XM_005265966.3:c.383-15C>A	XP_005266023.1:n.383-15C>A
XM_005265967.1:c.383-15C>A	XP_005266024.1:n.383-15C>A
XM_006714911.2:c.383-15C>A	XP_006714974.1:n.383-15C>A
XM_011534621.1:c.380-15C>A	XP_011532923.1:n.380-15C>A
XM_005265966.5:c.383-15C>A	XP_005266023.1:n.383-15C>A
XM_005265967.2:c.383-15C>A	XP_005266024.1:n.383-15C>A
XM_011534621.2:c.380-15C>A	XP_011532923.1:n.380-15C>A
XM_017009723.2:c.383-15C>A	XP_016865212.1:n.383-15C>A
XM_017009724.1:c.383-15C>A	XP_016865213.1:n.383-15C>A
NM_001128209.2:c.380-15C>A	NP_001121681.1:n.380-15C>A
NM_172244.3:c.383-15C>A	NP_758447.1:n.383-15C>A
NM_000337.6:c.383-15C>A MANE Select	NP_000328.2:n.383-15C>A