Canonical Allele Identifier: CA383029009

Gene: SC5D

Linked Data

• dbSNP Id: rs1947971478
• gnomAD v3: 11-121307084-A-G
• gnomAD v4: 11-121307084-A-G
• MyVariant Identifiers: chr11:g.121177793A>G (hg19) ; chr11:g.121307084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307084A>G , CM000673.2:g.121307084A>G	GRCh38
NC_000011.9:g.121177793A>G , CM000673.1:g.121177793A>G	GRCh37
NC_000011.8:g.120683003A>G	NCBI36
NG_009446.1:g.19406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.472A>G MANE Select	ENSP00000264027.4:p.Lys158Glu
ENST00000264027.8:c.472A>G	ENSP00000264027.4:p.Lys158Glu
ENST00000392789.2:c.472A>G	ENSP00000376539.2:p.Lys158Glu
ENST00000527183.1:n.765A>G
ENST00000527762.5:c.493A>G	ENSP00000436290.1:p.Lys165Glu
ENST00000528991.1:n.165A>G
ENST00000534230.5:c.472A>G	ENSP00000432550.1:p.Lys158Glu
NM_001024956.2:c.472A>G	NP_001020127.1:p.Lys158Glu
NM_006918.4:c.472A>G	NP_008849.2:p.Lys158Glu
NM_006918.5:c.472A>G MANE Select	NP_008849.2:p.Lys158Glu
NM_001024956.3:c.472A>G	NP_001020127.1:p.Lys158Glu