Canonical Allele Identifier: CA2004810569
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307314G= , CM000673.2:g.121307314G= GRCh38
NC_000011.9:g.121178023G= , CM000673.1:g.121178023G= GRCh37
NC_000011.8:g.120683233G= NCBI36
NG_009446.1:g.19636G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.702G= MANE Select ENSP00000264027.4:p.Met234=
ENST00000264027.8:c.702G= ENSP00000264027.4:p.Met234=
ENST00000392789.2:c.702G= ENSP00000376539.2:p.Met234=
ENST00000527183.1:n.995G=
ENST00000534230.5:c.631+71G= ENSP00000432550.1:n.631+71G=
NM_001024956.2:c.702G= NP_001020127.1:p.Met234=
NM_006918.4:c.702G= NP_008849.2:p.Met234=
NM_006918.5:c.702G= MANE Select NP_008849.2:p.Met234=
NM_001024956.3:c.702G= NP_001020127.1:p.Met234=