Canonical Allele Identifier: CA383030570
Gene: SC5D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307350G>T , CM000673.2:g.121307350G>T GRCh38
NC_000011.9:g.121178059G>T , CM000673.1:g.121178059G>T GRCh37
NC_000011.8:g.120683269G>T NCBI36
NG_009446.1:g.19672G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.738G>T MANE Select ENSP00000264027.4:p.Leu246Phe
ENST00000264027.8:c.738G>T ENSP00000264027.4:p.Leu246Phe
ENST00000392789.2:c.738G>T ENSP00000376539.2:p.Leu246Phe
ENST00000527183.1:n.1031G>T
ENST00000534230.5:c.632-107G>T ENSP00000432550.1:n.632-107G>T
NM_001024956.2:c.738G>T NP_001020127.1:p.Leu246Phe
NM_006918.4:c.738G>T NP_008849.2:p.Leu246Phe
NM_006918.5:c.738G>T MANE Select NP_008849.2:p.Leu246Phe
NM_001024956.3:c.738G>T NP_001020127.1:p.Leu246Phe