Canonical Allele Identifier: CA2004808876
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303445G= , CM000673.2:g.121303445G= GRCh38
NC_000011.9:g.121174154G= , CM000673.1:g.121174154G= GRCh37
NC_000011.8:g.120679364G= NCBI36
NG_009446.1:g.15767G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.70G= MANE Select ENSP00000264027.4:p.Glu24=
ENST00000264027.8:c.70G= ENSP00000264027.4:p.Glu24=
ENST00000392789.2:c.70G= ENSP00000376539.2:p.Glu24=
ENST00000524683.5:n.126G=
ENST00000527762.5:c.70G= ENSP00000436290.1:p.Glu24=
ENST00000531140.1:n.138G=
ENST00000534230.5:c.70G= ENSP00000432550.1:p.Glu24=
ENST00000534455.5:n.216G=
NM_001024956.2:c.70G= NP_001020127.1:p.Glu24=
NM_006918.4:c.70G= NP_008849.2:p.Glu24=
NM_006918.5:c.70G= MANE Select NP_008849.2:p.Glu24=
NM_001024956.3:c.70G= NP_001020127.1:p.Glu24=