Canonical Allele Identifier: CA142617
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 48115
dbSNP Id: rs200670993

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156344608C>G , CM000667.2:g.156344608C>G GRCh38
NC_000005.9:g.155771618C>G , CM000667.1:g.155771618C>G GRCh37
NC_000005.8:g.155704196C>G NCBI36
NG_008693.2:g.479265C>G , LRG_205:g.479265C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.123C>G MANE Select ENSP00000338343.4:p.Leu41=
ENST00000337851.8:c.123C>G ENSP00000338343.4:p.Leu41=
ENST00000435422.7:c.120C>G ENSP00000403003.2:p.Leu40=
ENST00000517913.5:c.123C>G ENSP00000429378.1:p.Leu41=
ENST00000524347.2:c.123C>G ENSP00000430794.1:p.Leu41=
NM_000337.5:c.123C>G , LRG_205t1:c.123C>G NP_000328.2:p.Leu41=
NM_001128209.1:c.120C>G NP_001121681.1:p.Leu40=
NM_172244.2:c.123C>G NP_758447.1:p.Leu41=
XM_005265966.3:c.123C>G XP_005266023.1:p.Leu41=
XM_005265967.1:c.123C>G XP_005266024.1:p.Leu41=
XM_006714911.2:c.123C>G XP_006714974.1:p.Leu41=
XM_011534621.1:c.120C>G XP_011532923.1:p.Leu40=
XR_941123.1:n.254+2845G>C
XM_005265966.5:c.123C>G XP_005266023.1:p.Leu41=
XM_005265967.2:c.123C>G XP_005266024.1:p.Leu41=
XM_011534621.2:c.120C>G XP_011532923.1:p.Leu40=
XM_017009723.2:c.123C>G XP_016865212.1:p.Leu41=
XM_017009724.1:c.123C>G XP_016865213.1:p.Leu41=
NM_001128209.2:c.120C>G NP_001121681.1:p.Leu40=
NM_172244.3:c.123C>G NP_758447.1:p.Leu41=
NM_000337.6:c.123C>G MANE Select NP_000328.2:p.Leu41=