Canonical Allele Identifier: CA2004810564

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307305C= , CM000673.2:g.121307305C=	GRCh38
NC_000011.9:g.121178014C= , CM000673.1:g.121178014C=	GRCh37
NC_000011.8:g.120683224C=	NCBI36
NG_009446.1:g.19627C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.693C= MANE Select	ENSP00000264027.4:p.Asp231=
ENST00000264027.8:c.693C=	ENSP00000264027.4:p.Asp231=
ENST00000392789.2:c.693C=	ENSP00000376539.2:p.Asp231=
ENST00000527183.1:n.986C=
ENST00000534230.5:c.631+62C=	ENSP00000432550.1:n.631+62C=
NM_001024956.2:c.693C=	NP_001020127.1:p.Asp231=
NM_006918.4:c.693C=	NP_008849.2:p.Asp231=
NM_006918.5:c.693C= MANE Select	NP_008849.2:p.Asp231=
NM_001024956.3:c.693C=	NP_001020127.1:p.Asp231=