Canonical Allele Identifier: CA383025933

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121174137A>G (hg19) ; chr11:g.121303428A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303428A>G , CM000673.2:g.121303428A>G	GRCh38
NC_000011.9:g.121174137A>G , CM000673.1:g.121174137A>G	GRCh37
NC_000011.8:g.120679347A>G	NCBI36
NG_009446.1:g.15750A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.53A>G MANE Select	ENSP00000264027.4:p.Tyr18Cys
ENST00000264027.8:c.53A>G	ENSP00000264027.4:p.Tyr18Cys
ENST00000392789.2:c.53A>G	ENSP00000376539.2:p.Tyr18Cys
ENST00000524683.5:n.109A>G
ENST00000527762.5:c.53A>G	ENSP00000436290.1:p.Tyr18Cys
ENST00000531140.1:n.121A>G
ENST00000534230.5:c.53A>G	ENSP00000432550.1:p.Tyr18Cys
ENST00000534455.5:n.199A>G
NM_001024956.2:c.53A>G	NP_001020127.1:p.Tyr18Cys
NM_006918.4:c.53A>G	NP_008849.2:p.Tyr18Cys
NM_006918.5:c.53A>G MANE Select	NP_008849.2:p.Tyr18Cys
NM_001024956.3:c.53A>G	NP_001020127.1:p.Tyr18Cys