Canonical Allele Identifier: CA383029074

Gene: SC5D

Linked Data

• ClinVar Variation Id: 916042
• ClinVar RCV Id: RCV001171521
• dbSNP Id: rs1947971579
• gnomAD v4: 11-121307091-C-G
• MyVariant Identifiers: chr11:g.121177800C>G (hg19) ; chr11:g.121307091C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307091C>G , CM000673.2:g.121307091C>G	GRCh38
NC_000011.9:g.121177800C>G , CM000673.1:g.121177800C>G	GRCh37
NC_000011.8:g.120683010C>G	NCBI36
NG_009446.1:g.19413C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.479C>G MANE Select	ENSP00000264027.4:p.Pro160Arg
ENST00000264027.8:c.479C>G	ENSP00000264027.4:p.Pro160Arg
ENST00000392789.2:c.479C>G	ENSP00000376539.2:p.Pro160Arg
ENST00000527183.1:n.772C>G
ENST00000527762.5:c.500C>G	ENSP00000436290.1:p.Pro167Arg
ENST00000528991.1:n.172C>G
ENST00000534230.5:c.479C>G	ENSP00000432550.1:p.Pro160Arg
NM_001024956.2:c.479C>G	NP_001020127.1:p.Pro160Arg
NM_006918.4:c.479C>G	NP_008849.2:p.Pro160Arg
NM_006918.5:c.479C>G MANE Select	NP_008849.2:p.Pro160Arg
NM_001024956.3:c.479C>G	NP_001020127.1:p.Pro160Arg