Canonical Allele Identifier: CA2004808870
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303429T= , CM000673.2:g.121303429T= GRCh38
NC_000011.9:g.121174138T= , CM000673.1:g.121174138T= GRCh37
NC_000011.8:g.120679348T= NCBI36
NG_009446.1:g.15751T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264027.9:c.54T= MANE Select ENSP00000264027.4:p.Tyr18=
ENST00000264027.8:c.54T= ENSP00000264027.4:p.Tyr18=
ENST00000392789.2:c.54T= ENSP00000376539.2:p.Tyr18=
ENST00000524683.5:n.110T=
ENST00000527762.5:c.54T= ENSP00000436290.1:p.Tyr18=
ENST00000531140.1:n.122T=
ENST00000534230.5:c.54T= ENSP00000432550.1:p.Tyr18=
ENST00000534455.5:n.200T=
NM_001024956.2:c.54T= NP_001020127.1:p.Tyr18=
NM_006918.4:c.54T= NP_008849.2:p.Tyr18=
NM_006918.5:c.54T= MANE Select NP_008849.2:p.Tyr18=
NM_001024956.3:c.54T= NP_001020127.1:p.Tyr18=