Canonical Allele Identifier: CA6678241

Gene: SLC35E3

Linked Data

• dbSNP Id: rs757854325
• ExAC: 12:69140179 G / A
• gnomAD v4: 12-68746399-G-A
• MyVariant Identifiers: chr12:g.69140179G>A (hg19) ; chr12:g.68746399G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746399G>A , CM000674.2:g.68746399G>A	GRCh38
NC_000012.11:g.69140179G>A , CM000674.1:g.69140179G>A	GRCh37
NC_000012.10:g.67426446G>A	NCBI36
NG_046600.2:g.64449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.265G>A
ENST00000398004.4:c.22G>A MANE Select	ENSP00000381089.2:p.Val8Met
ENST00000673712.1:c.22G>A	ENSP00000501065.1:p.Val8Met
ENST00000674096.1:c.22G>A	ENSP00000501130.1:p.Val8Met
ENST00000398004.3:c.22G>A	ENSP00000381089.2:p.Val8Met
NM_018656.2:c.22G>A	NP_061126.2:p.Val8Met
XM_005269006.2:c.22G>A	XP_005269063.1:p.Val8Met
NM_001354997.1:c.22G>A	NP_001341926.1:p.Val8Met
NM_001354998.1:c.22G>A	NP_001341927.1:p.Val8Met
NM_018656.3:c.22G>A	NP_061126.2:p.Val8Met
NR_149143.1:n.314G>A
NR_149144.1:n.314G>A
NM_001354997.3:c.22G>A	NP_001341926.1:p.Val8Met
NM_001354998.2:c.22G>A	NP_001341927.1:p.Val8Met
NM_018656.5:c.22G>A MANE Select	NP_061126.2:p.Val8Met
NR_149143.3:n.224G>A
NR_149144.3:n.224G>A