Canonical Allele Identifier: CA383029786
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307189G>C , CM000673.2:g.121307189G>C GRCh38
NC_000011.9:g.121177898G>C , CM000673.1:g.121177898G>C GRCh37
NC_000011.8:g.120683108G>C NCBI36
NG_009446.1:g.19511G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.577G>C MANE Select ENSP00000264027.4:p.Val193Leu
ENST00000264027.8:c.577G>C ENSP00000264027.4:p.Val193Leu
ENST00000392789.2:c.577G>C ENSP00000376539.2:p.Val193Leu
ENST00000527183.1:n.870G>C
ENST00000528991.1:n.270G>C
ENST00000534230.5:c.577G>C ENSP00000432550.1:p.Val193Leu
NM_001024956.2:c.577G>C NP_001020127.1:p.Val193Leu
NM_006918.4:c.577G>C NP_008849.2:p.Val193Leu
NM_006918.5:c.577G>C MANE Select NP_008849.2:p.Val193Leu
NM_001024956.3:c.577G>C NP_001020127.1:p.Val193Leu