Canonical Allele Identifier: CA6678265

Gene: SLC35E3

Linked Data

• dbSNP Id: rs769342089
• ExAC: 12:69140305 C / T
• gnomAD v2: 12-69140305-C-T
• gnomAD v4: 12-68746525-C-T
• MyVariant Identifiers: chr12:g.69140305C>T (hg19) ; chr12:g.68746525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746525C>T , CM000674.2:g.68746525C>T	GRCh38
NC_000012.11:g.69140305C>T , CM000674.1:g.69140305C>T	GRCh37
NC_000012.10:g.67426572C>T	NCBI36
NG_046600.2:g.64575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.391C>T
ENST00000398004.4:c.148C>T MANE Select	ENSP00000381089.2:p.His50Tyr
ENST00000673712.1:c.148C>T	ENSP00000501065.1:p.His50Tyr
ENST00000674096.1:c.148C>T	ENSP00000501130.1:p.His50Tyr
ENST00000398004.3:c.148C>T	ENSP00000381089.2:p.His50Tyr
NM_018656.2:c.148C>T	NP_061126.2:p.His50Tyr
XM_005269006.2:c.148C>T	XP_005269063.1:p.His50Tyr
NM_001354997.1:c.148C>T	NP_001341926.1:p.His50Tyr
NM_001354998.1:c.148C>T	NP_001341927.1:p.His50Tyr
NM_018656.3:c.148C>T	NP_061126.2:p.His50Tyr
NR_149143.1:n.440C>T
NR_149144.1:n.440C>T
NM_001354997.3:c.148C>T	NP_001341926.1:p.His50Tyr
NM_001354998.2:c.148C>T	NP_001341927.1:p.His50Tyr
NM_018656.5:c.148C>T MANE Select	NP_061126.2:p.His50Tyr
NR_149143.3:n.350C>T
NR_149144.3:n.350C>T