Canonical Allele Identifier: CA383026302

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121174233C>A (hg19) ; chr11:g.121303524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303524C>A , CM000673.2:g.121303524C>A	GRCh38
NC_000011.9:g.121174233C>A , CM000673.1:g.121174233C>A	GRCh37
NC_000011.8:g.120679443C>A	NCBI36
NG_009446.1:g.15846C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.149C>A MANE Select	ENSP00000264027.4:p.Ala50Glu
ENST00000264027.8:c.149C>A	ENSP00000264027.4:p.Ala50Glu
ENST00000392789.2:c.149C>A	ENSP00000376539.2:p.Ala50Glu
ENST00000524683.5:n.205C>A
ENST00000527762.5:c.149C>A	ENSP00000436290.1:p.Ala50Glu
ENST00000531140.1:n.217C>A
ENST00000534230.5:c.149C>A	ENSP00000432550.1:p.Ala50Glu
ENST00000534455.5:n.295C>A
NM_001024956.2:c.149C>A	NP_001020127.1:p.Ala50Glu
NM_006918.4:c.149C>A	NP_008849.2:p.Ala50Glu
NM_006918.5:c.149C>A MANE Select	NP_008849.2:p.Ala50Glu
NM_001024956.3:c.149C>A	NP_001020127.1:p.Ala50Glu