Canonical Allele Identifier: CA385700367

Gene: SLC35E3

Linked Data

• ClinVar Variation Id: 2295215
• ClinVar RCV Id: RCV004146825
• MyVariant Identifiers: chr12:g.69140278T>G (hg19) ; chr12:g.68746498T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746498T>G , CM000674.2:g.68746498T>G	GRCh38
NC_000012.11:g.69140278T>G , CM000674.1:g.69140278T>G	GRCh37
NC_000012.10:g.67426545T>G	NCBI36
NG_046600.2:g.64548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.364T>G
ENST00000398004.4:c.121T>G MANE Select	ENSP00000381089.2:p.Phe41Val
ENST00000673712.1:c.121T>G	ENSP00000501065.1:p.Phe41Val
ENST00000674096.1:c.121T>G	ENSP00000501130.1:p.Phe41Val
ENST00000398004.3:c.121T>G	ENSP00000381089.2:p.Phe41Val
NM_018656.2:c.121T>G	NP_061126.2:p.Phe41Val
XM_005269006.2:c.121T>G	XP_005269063.1:p.Phe41Val
NM_001354997.1:c.121T>G	NP_001341926.1:p.Phe41Val
NM_001354998.1:c.121T>G	NP_001341927.1:p.Phe41Val
NM_018656.3:c.121T>G	NP_061126.2:p.Phe41Val
NR_149143.1:n.413T>G
NR_149144.1:n.413T>G
NM_001354997.3:c.121T>G	NP_001341926.1:p.Phe41Val
NM_001354998.2:c.121T>G	NP_001341927.1:p.Phe41Val
NM_018656.5:c.121T>G MANE Select	NP_061126.2:p.Phe41Val
NR_149143.3:n.323T>G
NR_149144.3:n.323T>G