Canonical Allele Identifier: CA383029020

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121177794A>G (hg19) ; chr11:g.121307085A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307085A>G , CM000673.2:g.121307085A>G	GRCh38
NC_000011.9:g.121177794A>G , CM000673.1:g.121177794A>G	GRCh37
NC_000011.8:g.120683004A>G	NCBI36
NG_009446.1:g.19407A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.473A>G MANE Select	ENSP00000264027.4:p.Lys158Arg
ENST00000264027.8:c.473A>G	ENSP00000264027.4:p.Lys158Arg
ENST00000392789.2:c.473A>G	ENSP00000376539.2:p.Lys158Arg
ENST00000527183.1:n.766A>G
ENST00000527762.5:c.494A>G	ENSP00000436290.1:p.Lys165Arg
ENST00000528991.1:n.166A>G
ENST00000534230.5:c.473A>G	ENSP00000432550.1:p.Lys158Arg
NM_001024956.2:c.473A>G	NP_001020127.1:p.Lys158Arg
NM_006918.4:c.473A>G	NP_008849.2:p.Lys158Arg
NM_006918.5:c.473A>G MANE Select	NP_008849.2:p.Lys158Arg
NM_001024956.3:c.473A>G	NP_001020127.1:p.Lys158Arg