Canonical Allele Identifier: CA385700180

Gene: SLC35E3

Linked Data

• dbSNP Id: rs1361776284
• gnomAD v2: 12-69140190-C-A
• gnomAD v4: 12-68746410-C-A
• MyVariant Identifiers: chr12:g.69140190C>A (hg19) ; chr12:g.68746410C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746410C>A , CM000674.2:g.68746410C>A	GRCh38
NC_000012.11:g.69140190C>A , CM000674.1:g.69140190C>A	GRCh37
NC_000012.10:g.67426457C>A	NCBI36
NG_046600.2:g.64460C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.276C>A
ENST00000398004.4:c.33C>A MANE Select	ENSP00000381089.2:p.His11Gln
ENST00000673712.1:c.33C>A	ENSP00000501065.1:p.His11Gln
ENST00000674096.1:c.33C>A	ENSP00000501130.1:p.His11Gln
ENST00000398004.3:c.33C>A	ENSP00000381089.2:p.His11Gln
NM_018656.2:c.33C>A	NP_061126.2:p.His11Gln
XM_005269006.2:c.33C>A	XP_005269063.1:p.His11Gln
NM_001354997.1:c.33C>A	NP_001341926.1:p.His11Gln
NM_001354998.1:c.33C>A	NP_001341927.1:p.His11Gln
NM_018656.3:c.33C>A	NP_061126.2:p.His11Gln
NR_149143.1:n.325C>A
NR_149144.1:n.325C>A
NM_001354997.3:c.33C>A	NP_001341926.1:p.His11Gln
NM_001354998.2:c.33C>A	NP_001341927.1:p.His11Gln
NM_018656.5:c.33C>A MANE Select	NP_061126.2:p.His11Gln
NR_149143.3:n.235C>A
NR_149144.3:n.235C>A