Canonical Allele Identifier: CA142621
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 48116
dbSNP Id: rs74846539

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508621G>A , CM000667.2:g.156508621G>A GRCh38
NC_000005.9:g.155935631G>A , CM000667.1:g.155935631G>A GRCh37
NC_000005.8:g.155868209G>A NCBI36
NG_008693.2:g.643278G>A , LRG_205:g.643278G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.213G>A MANE Select ENSP00000338343.4:p.Arg71=
ENST00000337851.8:c.213G>A ENSP00000338343.4:p.Arg71=
ENST00000435422.7:c.210G>A ENSP00000403003.2:p.Arg70=
ENST00000517913.5:c.213G>A ENSP00000429378.1:p.Arg71=
ENST00000524347.2:c.*77G>A ENSP00000430794.1:n.*77G>A
NM_000337.5:c.213G>A , LRG_205t1:c.213G>A NP_000328.2:p.Arg71=
NM_001128209.1:c.210G>A NP_001121681.1:p.Arg70=
NM_172244.2:c.213G>A NP_758447.1:p.Arg71=
XM_005265966.3:c.213G>A XP_005266023.1:p.Arg71=
XM_005265967.1:c.213G>A XP_005266024.1:p.Arg71=
XM_006714911.2:c.213G>A XP_006714974.1:p.Arg71=
XM_011534621.1:c.210G>A XP_011532923.1:p.Arg70=
XM_005265966.5:c.213G>A XP_005266023.1:p.Arg71=
XM_005265967.2:c.213G>A XP_005266024.1:p.Arg71=
XM_011534621.2:c.210G>A XP_011532923.1:p.Arg70=
XM_017009723.2:c.213G>A XP_016865212.1:p.Arg71=
XM_017009724.1:c.213G>A XP_016865213.1:p.Arg71=
NM_001128209.2:c.210G>A NP_001121681.1:p.Arg70=
NM_172244.3:c.213G>A NP_758447.1:p.Arg71=
NM_000337.6:c.213G>A MANE Select NP_000328.2:p.Arg71=