Canonical Allele Identifier: CA383030227

Gene: SC5D

Linked Data

• ClinVar Variation Id: 877945
• ClinVar RCV Id: RCV001104116
• dbSNP Id: rs1947973564
• MyVariant Identifiers: chr11:g.121177983C>T (hg19) ; chr11:g.121307274C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307274C>T , CM000673.2:g.121307274C>T	GRCh38
NC_000011.9:g.121177983C>T , CM000673.1:g.121177983C>T	GRCh37
NC_000011.8:g.120683193C>T	NCBI36
NG_009446.1:g.19596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.662C>T MANE Select	ENSP00000264027.4:p.Pro221Leu
ENST00000264027.8:c.662C>T	ENSP00000264027.4:p.Pro221Leu
ENST00000392789.2:c.662C>T	ENSP00000376539.2:p.Pro221Leu
ENST00000527183.1:n.955C>T
ENST00000534230.5:c.631+31C>T	ENSP00000432550.1:n.631+31C>T
NM_001024956.2:c.662C>T	NP_001020127.1:p.Pro221Leu
NM_006918.4:c.662C>T	NP_008849.2:p.Pro221Leu
NM_006918.5:c.662C>T MANE Select	NP_008849.2:p.Pro221Leu
NM_001024956.3:c.662C>T	NP_001020127.1:p.Pro221Leu