Canonical Allele Identifier: CA563961408

Gene: SGCD

Linked Data

• dbSNP Id: rs1401160391
• gnomAD v2: 5-155771583-T-TG
• gnomAD v4: 5-156344573-T-TG
• MyVariant Identifiers: chr5:g.155771583_155771584insG (hg19) ; chr5:g.156344573_156344574insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156344575dup , CM000667.2:g.156344575dup	GRCh38
NC_000005.9:g.155771585dup , CM000667.1:g.155771585dup	GRCh37
NC_000005.8:g.155704163dup	NCBI36
NG_008693.2:g.479232dup , LRG_205:g.479232dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.90dup MANE Select	ENSP00000338343.4:p.Arg31AlafsTer?
ENST00000337851.8:c.90dup	ENSP00000338343.4:p.Arg31AlafsTer?
ENST00000435422.7:c.87dup	ENSP00000403003.2:p.Arg30AlafsTer?
ENST00000517913.5:c.90dup	ENSP00000429378.1:p.Arg31AlafsTer?
ENST00000524347.2:c.90dup	ENSP00000430794.1:p.Arg31AlafsTer?
NM_000337.5:c.90dup , LRG_205t1:c.90dup	NP_000328.2:p.Arg31AlafsTer?
NM_001128209.1:c.87dup	NP_001121681.1:p.Arg30AlafsTer?
NM_172244.2:c.90dup	NP_758447.1:p.Arg31AlafsTer?
XM_005265966.3:c.90dup	XP_005266023.1:p.Arg31AlafsTer?
XM_005265967.1:c.90dup	XP_005266024.1:p.Arg31AlafsTer?
XM_006714911.2:c.90dup	XP_006714974.1:p.Arg31AlafsTer?
XM_011534621.1:c.87dup	XP_011532923.1:p.Arg30AlafsTer?
XR_941123.1:n.254+2879dup
XM_005265966.5:c.90dup	XP_005266023.1:p.Arg31AlafsTer?
XM_005265967.2:c.90dup	XP_005266024.1:p.Arg31AlafsTer?
XM_011534621.2:c.87dup	XP_011532923.1:p.Arg30AlafsTer?
XM_017009723.2:c.90dup	XP_016865212.1:p.Arg31AlafsTer?
XM_017009724.1:c.90dup	XP_016865213.1:p.Arg31AlafsTer?
NM_001128209.2:c.87dup	NP_001121681.1:p.Arg30AlafsTer?
NM_172244.3:c.90dup	NP_758447.1:p.Arg31AlafsTer?
NM_000337.6:c.90dup MANE Select	NP_000328.2:p.Arg31AlafsTer?