Canonical Allele Identifier: CA3530625

Gene: SGCD

Linked Data

• ClinVar Variation Id: 286184
• ClinVar RCV Id: RCV000282516 ; RCV001080862 ; RCV000725804 ; RCV002348005 ; RCV003967752
• dbSNP Id: rs200451694
• ExAC: 5:156074514 T / G
• gnomAD v2: 5-156074514-T-G
• gnomAD v3: 5-156647504-T-G
• gnomAD v4: 5-156647504-T-G
• MyVariant Identifiers: chr5:g.156074514T>G (hg19) ; chr5:g.156647504T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156647504T>G , CM000667.2:g.156647504T>G	GRCh38
NC_000005.9:g.156074514T>G , CM000667.1:g.156074514T>G	GRCh37
NC_000005.8:g.156007092T>G	NCBI36
NG_008693.2:g.782161T>G , LRG_205:g.782161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.543T>G MANE Select	ENSP00000338343.4:p.Pro181=
ENST00000337851.8:c.543T>G	ENSP00000338343.4:p.Pro181=
ENST00000435422.7:c.540T>G	ENSP00000403003.2:p.Pro180=
ENST00000517913.5:c.543T>G	ENSP00000429378.1:p.Pro181=
NM_000337.5:c.543T>G , LRG_205t1:c.543T>G	NP_000328.2:p.Pro181=
NM_001128209.1:c.540T>G	NP_001121681.1:p.Pro180=
NM_172244.2:c.543T>G	NP_758447.1:p.Pro181=
XM_005265966.3:c.543T>G	XP_005266023.1:p.Pro181=
XM_005265967.1:c.502+52453T>G	XP_005266024.1:n.502+52453T>G
XM_006714911.2:c.543T>G	XP_006714974.1:p.Pro181=
XM_011534621.1:c.540T>G	XP_011532923.1:p.Pro180=
XM_005265966.5:c.543T>G	XP_005266023.1:p.Pro181=
XM_005265967.2:c.502+52453T>G	XP_005266024.1:n.502+52453T>G
XM_011534621.2:c.540T>G	XP_011532923.1:p.Pro180=
XM_017009723.2:c.543T>G	XP_016865212.1:p.Pro181=
XM_017009724.1:c.543T>G	XP_016865213.1:p.Pro181=
NM_001128209.2:c.540T>G	NP_001121681.1:p.Pro180=
NM_172244.3:c.543T>G	NP_758447.1:p.Pro181=
NM_000337.6:c.543T>G MANE Select	NP_000328.2:p.Pro181=