Canonical Allele Identifier: CA383025858

Gene: SC5D

Linked Data

• dbSNP Id: rs1312339895
• gnomAD v4: 11-121303407-A-T
• MyVariant Identifiers: chr11:g.121174116A>T (hg19) ; chr11:g.121303407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303407A>T , CM000673.2:g.121303407A>T	GRCh38
NC_000011.9:g.121174116A>T , CM000673.1:g.121174116A>T	GRCh37
NC_000011.8:g.120679326A>T	NCBI36
NG_009446.1:g.15729A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.32A>T MANE Select	ENSP00000264027.4:p.Tyr11Phe
ENST00000264027.8:c.32A>T	ENSP00000264027.4:p.Tyr11Phe
ENST00000392789.2:c.32A>T	ENSP00000376539.2:p.Tyr11Phe
ENST00000524683.5:n.88A>T
ENST00000527762.5:c.32A>T	ENSP00000436290.1:p.Tyr11Phe
ENST00000531140.1:n.100A>T
ENST00000534230.5:c.32A>T	ENSP00000432550.1:p.Tyr11Phe
ENST00000534455.5:n.178A>T
NM_001024956.2:c.32A>T	NP_001020127.1:p.Tyr11Phe
NM_006918.4:c.32A>T	NP_008849.2:p.Tyr11Phe
NM_006918.5:c.32A>T MANE Select	NP_008849.2:p.Tyr11Phe
NM_001024956.3:c.32A>T	NP_001020127.1:p.Tyr11Phe