Canonical Allele Identifier: CA383030320
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307295A>G , CM000673.2:g.121307295A>G GRCh38
NC_000011.9:g.121178004A>G , CM000673.1:g.121178004A>G GRCh37
NC_000011.8:g.120683214A>G NCBI36
NG_009446.1:g.19617A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.683A>G MANE Select ENSP00000264027.4:p.His228Arg
ENST00000264027.8:c.683A>G ENSP00000264027.4:p.His228Arg
ENST00000392789.2:c.683A>G ENSP00000376539.2:p.His228Arg
ENST00000527183.1:n.976A>G
ENST00000534230.5:c.631+52A>G ENSP00000432550.1:n.631+52A>G
NM_001024956.2:c.683A>G NP_001020127.1:p.His228Arg
NM_006918.4:c.683A>G NP_008849.2:p.His228Arg
NM_006918.5:c.683A>G MANE Select NP_008849.2:p.His228Arg
NM_001024956.3:c.683A>G NP_001020127.1:p.His228Arg