Canonical Allele Identifier: CA383027082

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121304373C>T , CM000673.2:g.121304373C>T	GRCh38
NC_000011.9:g.121175082C>T , CM000673.1:g.121175082C>T	GRCh37
NC_000011.8:g.120680292C>T	NCBI36
NG_009446.1:g.16695C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006918.5:c.223C>T MANE Select	NP_008849.2:p.Arg75Ter
ENST00000264027.9:c.223C>T MANE Select	ENSP00000264027.4:p.Arg75Ter
NM_001024956.2:c.223C>T	NP_001020127.1:p.Arg75Ter
NM_001024956.3:c.223C>T	NP_001020127.1:p.Arg75Ter
NM_006918.4:c.223C>T	NP_008849.2:p.Arg75Ter
ENST00000264027.8:c.223C>T	ENSP00000264027.4:p.Arg75Ter
ENST00000392789.2:c.223C>T	ENSP00000376539.2:p.Arg75Ter
ENST00000524683.5:n.1054C>T
ENST00000527762.5:c.244C>T	ENSP00000436290.1:p.Arg82Ter
ENST00000531140.1:n.291C>T
ENST00000534230.5:c.223C>T	ENSP00000432550.1:p.Arg75Ter
ENST00000534455.5:n.369C>T