Canonical Allele Identifier: CA383030348
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307301C>T , CM000673.2:g.121307301C>T GRCh38
NC_000011.9:g.121178010C>T , CM000673.1:g.121178010C>T GRCh37
NC_000011.8:g.120683220C>T NCBI36
NG_009446.1:g.19623C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.689C>T MANE Select ENSP00000264027.4:p.Thr230Ile
ENST00000264027.8:c.689C>T ENSP00000264027.4:p.Thr230Ile
ENST00000392789.2:c.689C>T ENSP00000376539.2:p.Thr230Ile
ENST00000527183.1:n.982C>T
ENST00000534230.5:c.631+58C>T ENSP00000432550.1:n.631+58C>T
NM_001024956.2:c.689C>T NP_001020127.1:p.Thr230Ile
NM_006918.4:c.689C>T NP_008849.2:p.Thr230Ile
NM_006918.5:c.689C>T MANE Select NP_008849.2:p.Thr230Ile
NM_001024956.3:c.689C>T NP_001020127.1:p.Thr230Ile