Canonical Allele Identifier: CA383026279

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121174227T>G (hg19) ; chr11:g.121303518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303518T>G , CM000673.2:g.121303518T>G	GRCh38
NC_000011.9:g.121174227T>G , CM000673.1:g.121174227T>G	GRCh37
NC_000011.8:g.120679437T>G	NCBI36
NG_009446.1:g.15840T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.143T>G MANE Select	ENSP00000264027.4:p.Phe48Cys
ENST00000264027.8:c.143T>G	ENSP00000264027.4:p.Phe48Cys
ENST00000392789.2:c.143T>G	ENSP00000376539.2:p.Phe48Cys
ENST00000524683.5:n.199T>G
ENST00000527762.5:c.143T>G	ENSP00000436290.1:p.Phe48Cys
ENST00000531140.1:n.211T>G
ENST00000534230.5:c.143T>G	ENSP00000432550.1:p.Phe48Cys
ENST00000534455.5:n.289T>G
NM_001024956.2:c.143T>G	NP_001020127.1:p.Phe48Cys
NM_006918.4:c.143T>G	NP_008849.2:p.Phe48Cys
NM_006918.5:c.143T>G MANE Select	NP_008849.2:p.Phe48Cys
NM_001024956.3:c.143T>G	NP_001020127.1:p.Phe48Cys