Canonical Allele Identifier: CA2004810576

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307336C= , CM000673.2:g.121307336C=	GRCh38
NC_000011.9:g.121178045C= , CM000673.1:g.121178045C=	GRCh37
NC_000011.8:g.120683255C=	NCBI36
NG_009446.1:g.19658C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.724C= MANE Select	ENSP00000264027.4:p.Gln242=
ENST00000264027.8:c.724C=	ENSP00000264027.4:p.Gln242=
ENST00000392789.2:c.724C=	ENSP00000376539.2:p.Gln242=
ENST00000527183.1:n.1017C=
ENST00000534230.5:c.631+93C=	ENSP00000432550.1:n.631+93C=
NM_001024956.2:c.724C=	NP_001020127.1:p.Gln242=
NM_006918.4:c.724C=	NP_008849.2:p.Gln242=
NM_006918.5:c.724C= MANE Select	NP_008849.2:p.Gln242=
NM_001024956.3:c.724C=	NP_001020127.1:p.Gln242=