Canonical Allele Identifier: CA2004808849

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303388C= , CM000673.2:g.121303388C=	GRCh38
NC_000011.9:g.121174097C= , CM000673.1:g.121174097C=	GRCh37
NC_000011.8:g.120679307C=	NCBI36
NG_009446.1:g.15710C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.13C= MANE Select	ENSP00000264027.4:p.Leu5=
ENST00000264027.8:c.13C=	ENSP00000264027.4:p.Leu5=
ENST00000392789.2:c.13C=	ENSP00000376539.2:p.Leu5=
ENST00000524683.5:n.69C=
ENST00000527762.5:c.13C=	ENSP00000436290.1:p.Leu5=
ENST00000531140.1:n.81C=
ENST00000534230.5:c.13C=	ENSP00000432550.1:p.Leu5=
ENST00000534455.5:n.159C=
NM_001024956.2:c.13C=	NP_001020127.1:p.Leu5=
NM_006918.4:c.13C=	NP_008849.2:p.Leu5=
NM_006918.5:c.13C= MANE Select	NP_008849.2:p.Leu5=
NM_001024956.3:c.13C=	NP_001020127.1:p.Leu5=