Canonical Allele Identifier: CA383030241

Gene: SC5D

Linked Data

• dbSNP Id: rs1947973615
• COSMIC: COSM257950
• MyVariant Identifiers: chr11:g.121177986T>G (hg19) ; chr11:g.121307277T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307277T>G , CM000673.2:g.121307277T>G	GRCh38
NC_000011.9:g.121177986T>G , CM000673.1:g.121177986T>G	GRCh37
NC_000011.8:g.120683196T>G	NCBI36
NG_009446.1:g.19599T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.665T>G MANE Select	ENSP00000264027.4:p.Phe222Cys
ENST00000264027.8:c.665T>G	ENSP00000264027.4:p.Phe222Cys
ENST00000392789.2:c.665T>G	ENSP00000376539.2:p.Phe222Cys
ENST00000527183.1:n.958T>G
ENST00000534230.5:c.631+34T>G	ENSP00000432550.1:n.631+34T>G
NM_001024956.2:c.665T>G	NP_001020127.1:p.Phe222Cys
NM_006918.4:c.665T>G	NP_008849.2:p.Phe222Cys
NM_006918.5:c.665T>G MANE Select	NP_008849.2:p.Phe222Cys
NM_001024956.3:c.665T>G	NP_001020127.1:p.Phe222Cys