Canonical Allele Identifier: CA142617

Gene: SGCD

Linked Data

• ClinVar Variation Id: 48115
• ClinVar RCV Id: RCV000041401 ; RCV000725068 ; RCV001085117 ; RCV001156235 ; RCV002371857
• dbSNP Id: rs200670993
• ExAC: 5:155771618 C / G
• gnomAD v2: 5-155771618-C-G
• gnomAD v3: 5-156344608-C-G
• gnomAD v4: 5-156344608-C-G
• COSMIC: COSM3947169 ; COSM3947170
• MyVariant Identifiers: chr5:g.155771618C>G (hg19) ; chr5:g.156344608C>G (hg38)

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=