Canonical Allele Identifier: CA385700519

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1190752207
• gnomAD v2: 12-69140350-G-C
• gnomAD v4: 12-68746570-G-C
• MyVariant Identifiers: chr12:g.69140350G>C (hg19) ; chr12:g.68746570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746570G>C , CM000674.2:g.68746570G>C	GRCh38
NC_000012.11:g.69140350G>C , CM000674.1:g.69140350G>C	GRCh37
NC_000012.10:g.67426617G>C	NCBI36
NG_046600.2:g.64620G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.436G>C
ENST00000398004.4:c.193G>C MANE Select	ENSP00000381089.2:p.Asp65His
ENST00000673712.1:c.193G>C	ENSP00000501065.1:p.Asp65His
ENST00000674096.1:c.193G>C	ENSP00000501130.1:p.Asp65His
ENST00000398004.3:c.193G>C	ENSP00000381089.2:p.Asp65His
NM_018656.2:c.193G>C	NP_061126.2:p.Asp65His
XM_005269006.2:c.193G>C	XP_005269063.1:p.Asp65His
NM_001354997.1:c.193G>C	NP_001341926.1:p.Asp65His
NM_001354998.1:c.193G>C	NP_001341927.1:p.Asp65His
NM_018656.3:c.193G>C	NP_061126.2:p.Asp65His
NR_149143.1:n.485G>C
NR_149144.1:n.485G>C
NM_001354997.3:c.193G>C	NP_001341926.1:p.Asp65His
NM_001354998.2:c.193G>C	NP_001341927.1:p.Asp65His
NM_018656.5:c.193G>C MANE Select	NP_061126.2:p.Asp65His
NR_149143.3:n.395G>C
NR_149144.3:n.395G>C