Canonical Allele Identifier: CA142644

Gene: SGCD

Linked Data

• ClinVar Variation Id: 48123
• ClinVar RCV Id: RCV000041411 ; RCV000172106 ; RCV000670909 ; RCV001522616
• dbSNP Id: rs180898690
• ExAC: 5:156184733 C / G
• gnomAD v2: 5-156184733-C-G
• gnomAD v3: 5-156757722-C-G
• gnomAD v4: 5-156757722-C-G
• MyVariant Identifiers: chr5:g.156184733C>G (hg19) ; chr5:g.156757722C>G (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156757722C>G , CM000667.2:g.156757722C>G	GRCh38
NC_000005.9:g.156184733C>G , CM000667.1:g.156184733C>G	GRCh37
NC_000005.8:g.156117311C>G	NCBI36
NG_008693.2:g.892380C>G , LRG_205:g.892380C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.699+18C>G MANE Select	ENSP00000338343.4:n.699+18C>G
ENST00000337851.8:c.699+18C>G	ENSP00000338343.4:n.699+18C>G
ENST00000435422.7:c.696+18C>G	ENSP00000403003.2:n.696+18C>G
ENST00000517913.5:c.717C>G	ENSP00000429378.1:p.Asp239Glu
NM_000337.5:c.699+18C>G , LRG_205t1:c.699+18C>G	NP_000328.2:n.699+18C>G
NM_001128209.1:c.696+18C>G	NP_001121681.1:n.696+18C>G
NM_172244.2:c.717C>G	NP_758447.1:p.Asp239Glu
XM_005265966.3:c.699+18C>G	XP_005266023.1:n.699+18C>G
XM_006714911.2:c.699+18C>G	XP_006714974.1:n.699+18C>G
XM_011534621.1:c.696+18C>G	XP_011532923.1:n.696+18C>G
XM_005265966.5:c.699+18C>G	XP_005266023.1:n.699+18C>G
XM_011534621.2:c.696+18C>G	XP_011532923.1:n.696+18C>G
XM_017009723.2:c.699+18C>G	XP_016865212.1:n.699+18C>G
XM_017009724.1:c.699+18C>G	XP_016865213.1:n.699+18C>G
NM_001128209.2:c.696+18C>G	NP_001121681.1:n.696+18C>G
NM_172244.3:c.717C>G	NP_758447.1:p.Asp239Glu
NM_000337.6:c.699+18C>G MANE Select	NP_000328.2:n.699+18C>G