Canonical Allele Identifier: CA229857442

Gene: SC5D

Linked Data

• dbSNP Id: rs867964883
• gnomAD v4: 11-121307317-C-A
• MyVariant Identifiers: chr11:g.121178026C>A (hg19) ; chr11:g.121307317C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307317C>A , CM000673.2:g.121307317C>A	GRCh38
NC_000011.9:g.121178026C>A , CM000673.1:g.121178026C>A	GRCh37
NC_000011.8:g.120683236C>A	NCBI36
NG_009446.1:g.19639C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.705C>A MANE Select	ENSP00000264027.4:p.Phe235Leu
ENST00000264027.8:c.705C>A	ENSP00000264027.4:p.Phe235Leu
ENST00000392789.2:c.705C>A	ENSP00000376539.2:p.Phe235Leu
ENST00000527183.1:n.998C>A
ENST00000534230.5:c.631+74C>A	ENSP00000432550.1:n.631+74C>A
NM_001024956.2:c.705C>A	NP_001020127.1:p.Phe235Leu
NM_006918.4:c.705C>A	NP_008849.2:p.Phe235Leu
NM_006918.5:c.705C>A MANE Select	NP_008849.2:p.Phe235Leu
NM_001024956.3:c.705C>A	NP_001020127.1:p.Phe235Leu