Canonical Allele Identifier: CA383029742
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307177T>G , CM000673.2:g.121307177T>G GRCh38
NC_000011.9:g.121177886T>G , CM000673.1:g.121177886T>G GRCh37
NC_000011.8:g.120683096T>G NCBI36
NG_009446.1:g.19499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.565T>G MANE Select ENSP00000264027.4:p.Leu189Val
ENST00000264027.8:c.565T>G ENSP00000264027.4:p.Leu189Val
ENST00000392789.2:c.565T>G ENSP00000376539.2:p.Leu189Val
ENST00000527183.1:n.858T>G
ENST00000528991.1:n.258T>G
ENST00000534230.5:c.565T>G ENSP00000432550.1:p.Leu189Val
NM_001024956.2:c.565T>G NP_001020127.1:p.Leu189Val
NM_006918.4:c.565T>G NP_008849.2:p.Leu189Val
NM_006918.5:c.565T>G MANE Select NP_008849.2:p.Leu189Val
NM_001024956.3:c.565T>G NP_001020127.1:p.Leu189Val