Canonical Allele Identifier: CA383030537
Gene: SC5D HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.121178051T>C (hg19) chr11:g.121307342T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307342T>C , CM000673.2:g.121307342T>C GRCh38
NC_000011.9:g.121178051T>C , CM000673.1:g.121178051T>C GRCh37
NC_000011.8:g.120683261T>C NCBI36
NG_009446.1:g.19664T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.730T>C MANE Select ENSP00000264027.4:p.Phe244Leu
ENST00000264027.8:c.730T>C ENSP00000264027.4:p.Phe244Leu
ENST00000392789.2:c.730T>C ENSP00000376539.2:p.Phe244Leu
ENST00000527183.1:n.1023T>C
ENST00000534230.5:c.631+99T>C ENSP00000432550.1:n.631+99T>C
NM_001024956.2:c.730T>C NP_001020127.1:p.Phe244Leu
NM_006918.4:c.730T>C NP_008849.2:p.Phe244Leu
NM_006918.5:c.730T>C MANE Select NP_008849.2:p.Phe244Leu
NM_001024956.3:c.730T>C NP_001020127.1:p.Phe244Leu
Search 100 bp 5'
Search 100 bp 3'