Canonical Allele Identifier: CA385700506

Gene: SLC35E3

Linked Data

• MyVariant Identifiers: chr12:g.69140344A>G (hg19) ; chr12:g.68746564A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746564A>G , CM000674.2:g.68746564A>G	GRCh38
NC_000012.11:g.69140344A>G , CM000674.1:g.69140344A>G	GRCh37
NC_000012.10:g.67426611A>G	NCBI36
NG_046600.2:g.64614A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000319429.7:n.430A>G
ENST00000398004.4:c.187A>G MANE Select	ENSP00000381089.2:p.Lys63Glu
ENST00000673712.1:c.187A>G	ENSP00000501065.1:p.Lys63Glu
ENST00000674096.1:c.187A>G	ENSP00000501130.1:p.Lys63Glu
ENST00000398004.3:c.187A>G	ENSP00000381089.2:p.Lys63Glu
NM_018656.2:c.187A>G	NP_061126.2:p.Lys63Glu
XM_005269006.2:c.187A>G	XP_005269063.1:p.Lys63Glu
NM_001354997.1:c.187A>G	NP_001341926.1:p.Lys63Glu
NM_001354998.1:c.187A>G	NP_001341927.1:p.Lys63Glu
NM_018656.3:c.187A>G	NP_061126.2:p.Lys63Glu
NR_149143.1:n.479A>G
NR_149144.1:n.479A>G
NM_001354997.3:c.187A>G	NP_001341926.1:p.Lys63Glu
NM_001354998.2:c.187A>G	NP_001341927.1:p.Lys63Glu
NM_018656.5:c.187A>G MANE Select	NP_061126.2:p.Lys63Glu
NR_149143.3:n.389A>G
NR_149144.3:n.389A>G