Canonical Allele Identifier: CA308776
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 202084
dbSNP Id: rs190935424

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594951T>C , CM000667.2:g.156594951T>C GRCh38
NC_000005.9:g.156021961T>C , CM000667.1:g.156021961T>C GRCh37
NC_000005.8:g.155954539T>C NCBI36
NG_008693.2:g.729608T>C , LRG_205:g.729608T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.402T>C MANE Select ENSP00000338343.4:p.Ala134=
ENST00000337851.8:c.402T>C ENSP00000338343.4:p.Ala134=
ENST00000435422.7:c.399T>C ENSP00000403003.2:p.Ala133=
ENST00000517913.5:c.402T>C ENSP00000429378.1:p.Ala134=
NM_000337.5:c.402T>C , LRG_205t1:c.402T>C NP_000328.2:p.Ala134=
NM_001128209.1:c.399T>C NP_001121681.1:p.Ala133=
NM_172244.2:c.402T>C NP_758447.1:p.Ala134=
XM_005265966.3:c.402T>C XP_005266023.1:p.Ala134=
XM_005265967.1:c.402T>C XP_005266024.1:p.Ala134=
XM_006714911.2:c.402T>C XP_006714974.1:p.Ala134=
XM_011534621.1:c.399T>C XP_011532923.1:p.Ala133=
XM_005265966.5:c.402T>C XP_005266023.1:p.Ala134=
XM_005265967.2:c.402T>C XP_005266024.1:p.Ala134=
XM_011534621.2:c.399T>C XP_011532923.1:p.Ala133=
XM_017009723.2:c.402T>C XP_016865212.1:p.Ala134=
XM_017009724.1:c.402T>C XP_016865213.1:p.Ala134=
NM_001128209.2:c.399T>C NP_001121681.1:p.Ala133=
NM_172244.3:c.402T>C NP_758447.1:p.Ala134=
NM_000337.6:c.402T>C MANE Select NP_000328.2:p.Ala134=