Canonical Allele Identifier: CA340756
Gene: SGCD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8177
ClinVar RCV Id: RCV000008656
dbSNP Id: rs267607045

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156594940G>C , CM000667.2:g.156594940G>C GRCh38
NC_000005.9:g.156021950G>C , CM000667.1:g.156021950G>C GRCh37
NC_000005.8:g.155954528G>C NCBI36
NG_008693.2:g.729597G>C , LRG_205:g.729597G>C

Transcript Alleles

HGVS Amino-acid change
NM_000337.5:c.391G>C , LRG_205t1:c.391G>C NP_000328.2:p.Ala131Pro
NM_001128209.1:c.388G>C VV NP_001121681.1:p.Ala130Pro
NM_172244.2:c.391G>C VV NP_758447.1:p.Ala131Pro
XM_005265966.3:c.391G>C XP_005266023.1:p.Ala131Pro
XM_005265967.1:c.391G>C XP_005266024.1:p.Ala131Pro
XM_006714911.2:c.391G>C XP_006714974.1:p.Ala131Pro
XM_011534621.1:c.388G>C XP_011532923.1:p.Ala130Pro
XM_005265966.5:c.391G>C XP_005266023.1:p.Ala131Pro
XM_005265967.2:c.391G>C XP_005266024.1:p.Ala131Pro
XM_011534621.2:c.388G>C XP_011532923.1:p.Ala130Pro
XM_017009723.2:c.391G>C XP_016865212.1:p.Ala131Pro
XM_017009724.1:c.391G>C XP_016865213.1:p.Ala131Pro
ENST00000337851.8:c.391G>C ENSP00000338343.4:p.Ala131Pro
ENST00000435422.7:c.388G>C ENSP00000403003.2:p.Ala130Pro
ENST00000517913.5:c.391G>C ENSP00000429378.1:p.Ala131Pro