Canonical Allele Identifier: CA362008040
Gene: SGCD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508658G>C , CM000667.2:g.156508658G>C GRCh38
NC_000005.9:g.155935668G>C , CM000667.1:g.155935668G>C GRCh37
NC_000005.8:g.155868246G>C NCBI36
NG_008693.2:g.643315G>C , LRG_205:g.643315G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.250G>C MANE Select ENSP00000338343.4:p.Glu84Gln
ENST00000337851.8:c.250G>C ENSP00000338343.4:p.Glu84Gln
ENST00000435422.7:c.247G>C ENSP00000403003.2:p.Glu83Gln
ENST00000517913.5:c.250G>C ENSP00000429378.1:p.Glu84Gln
ENST00000524347.2:c.*114G>C ENSP00000430794.1:n.*114G>C
NM_000337.5:c.250G>C , LRG_205t1:c.250G>C NP_000328.2:p.Glu84Gln
NM_001128209.1:c.247G>C NP_001121681.1:p.Glu83Gln
NM_172244.2:c.250G>C NP_758447.1:p.Glu84Gln
XM_005265966.3:c.250G>C XP_005266023.1:p.Glu84Gln
XM_005265967.1:c.250G>C XP_005266024.1:p.Glu84Gln
XM_006714911.2:c.250G>C XP_006714974.1:p.Glu84Gln
XM_011534621.1:c.247G>C XP_011532923.1:p.Glu83Gln
XM_005265966.5:c.250G>C XP_005266023.1:p.Glu84Gln
XM_005265967.2:c.250G>C XP_005266024.1:p.Glu84Gln
XM_011534621.2:c.247G>C XP_011532923.1:p.Glu83Gln
XM_017009723.2:c.250G>C XP_016865212.1:p.Glu84Gln
XM_017009724.1:c.250G>C XP_016865213.1:p.Glu84Gln
NM_001128209.2:c.247G>C NP_001121681.1:p.Glu83Gln
NM_172244.3:c.250G>C NP_758447.1:p.Glu84Gln
NM_000337.6:c.250G>C MANE Select NP_000328.2:p.Glu84Gln