Canonical Allele Identifier: CA2499217754
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 1120567
ClinVar RCV Id: RCV001450532
dbSNP Id: rs2127875278
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508594_156508597dup , CM000667.2:g.156508594_156508597dup GRCh38
NC_000005.9:g.155935604_155935607dup , CM000667.1:g.155935604_155935607dup GRCh37
NC_000005.8:g.155868182_155868185dup NCBI36
NG_008693.2:g.643251_643254dup , LRG_205:g.643251_643254dup

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.193-7_193-4dup MANE Select ENSP00000338343.4:n.193-7_193-4dup
ENST00000337851.8:c.193-7_193-4dup ENSP00000338343.4:n.193-7_193-4dup
ENST00000435422.7:c.190-7_190-4dup ENSP00000403003.2:n.190-7_190-4dup
ENST00000517913.5:c.193-7_193-4dup ENSP00000429378.1:n.193-7_193-4dup
ENST00000524347.2:c.*57-7_*57-4dup ENSP00000430794.1:n.*57-7_*57-4dup
NM_000337.5:c.193-7_193-4dup , LRG_205t1:c.193-7_193-4dup NP_000328.2:n.193-7_193-4dup
NM_001128209.1:c.190-7_190-4dup NP_001121681.1:n.190-7_190-4dup
NM_172244.2:c.193-7_193-4dup NP_758447.1:n.193-7_193-4dup
XM_005265966.3:c.193-7_193-4dup XP_005266023.1:n.193-7_193-4dup
XM_005265967.1:c.193-7_193-4dup XP_005266024.1:n.193-7_193-4dup
XM_006714911.2:c.193-7_193-4dup XP_006714974.1:n.193-7_193-4dup
XM_011534621.1:c.190-7_190-4dup XP_011532923.1:n.190-7_190-4dup
XM_005265966.5:c.193-7_193-4dup XP_005266023.1:n.193-7_193-4dup
XM_005265967.2:c.193-7_193-4dup XP_005266024.1:n.193-7_193-4dup
XM_011534621.2:c.190-7_190-4dup XP_011532923.1:n.190-7_190-4dup
XM_017009723.2:c.193-7_193-4dup XP_016865212.1:n.193-7_193-4dup
XM_017009724.1:c.193-7_193-4dup XP_016865213.1:n.193-7_193-4dup
NM_001128209.2:c.190-7_190-4dup NP_001121681.1:n.190-7_190-4dup
NM_172244.3:c.193-7_193-4dup NP_758447.1:n.193-7_193-4dup
NM_000337.6:c.193-7_193-4dup MANE Select NP_000328.2:n.193-7_193-4dup
Search 100 bp 5'
Search 100 bp 3'