Canonical Allele Identifier: CA2004810513
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307152C= , CM000673.2:g.121307152C= GRCh38
NC_000011.9:g.121177861C= , CM000673.1:g.121177861C= GRCh37
NC_000011.8:g.120683071C= NCBI36
NG_009446.1:g.19474C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.540C= MANE Select ENSP00000264027.4:p.Tyr180=
ENST00000264027.8:c.540C= ENSP00000264027.4:p.Tyr180=
ENST00000392789.2:c.540C= ENSP00000376539.2:p.Tyr180=
ENST00000527183.1:n.833C=
ENST00000528991.1:n.233C=
ENST00000534230.5:c.540C= ENSP00000432550.1:p.Tyr180=
NM_001024956.2:c.540C= NP_001020127.1:p.Tyr180=
NM_006918.4:c.540C= NP_008849.2:p.Tyr180=
NM_006918.5:c.540C= MANE Select NP_008849.2:p.Tyr180=
NM_001024956.3:c.540C= NP_001020127.1:p.Tyr180=