Canonical Allele Identifier: CA2004808909
Community Standard Title: NM_006918.5(SC5D):c.137A= (p.Tyr46=)
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303512A= , CM000673.2:g.121303512A= GRCh38
NC_000011.9:g.121174221A= , CM000673.1:g.121174221A= GRCh37
NC_000011.8:g.120679431A= NCBI36
NG_009446.1:g.15834A=

Transcript Alleles

HGVS Amino-acid Change
NM_006918.5:c.137A= MANE Select NP_008849.2:p.Tyr46=
ENST00000264027.9:c.137A= MANE Select ENSP00000264027.4:p.Tyr46=
NM_001024956.2:c.137A= NP_001020127.1:p.Tyr46=
NM_001024956.3:c.137A= NP_001020127.1:p.Tyr46=
NM_006918.4:c.137A= NP_008849.2:p.Tyr46=
ENST00000264027.8:c.137A= ENSP00000264027.4:p.Tyr46=
ENST00000392789.2:c.137A= ENSP00000376539.2:p.Tyr46=
ENST00000524683.5:n.193A=
ENST00000527762.5:c.137A= ENSP00000436290.1:p.Tyr46=
ENST00000531140.1:n.205A=
ENST00000534230.5:c.137A= ENSP00000432550.1:p.Tyr46=
ENST00000534455.5:n.283A=