Canonical Allele Identifier: CA2004810496

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307102G= , CM000673.2:g.121307102G=	GRCh38
NC_000011.9:g.121177811G= , CM000673.1:g.121177811G=	GRCh37
NC_000011.8:g.120683021G=	NCBI36
NG_009446.1:g.19424G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.490G= MANE Select	ENSP00000264027.4:p.Ala164=
ENST00000264027.8:c.490G=	ENSP00000264027.4:p.Ala164=
ENST00000392789.2:c.490G=	ENSP00000376539.2:p.Ala164=
ENST00000527183.1:n.783G=
ENST00000527762.5:c.511G=	ENSP00000436290.1:p.Ala171=
ENST00000528991.1:n.183G=
ENST00000534230.5:c.490G=	ENSP00000432550.1:p.Ala164=
NM_001024956.2:c.490G=	NP_001020127.1:p.Ala164=
NM_006918.4:c.490G=	NP_008849.2:p.Ala164=
NM_006918.5:c.490G= MANE Select	NP_008849.2:p.Ala164=
NM_001024956.3:c.490G=	NP_001020127.1:p.Ala164=