Canonical Allele Identifier: CA6678281

Gene: SLC35E3

Linked Data

• dbSNP Id: rs767812081
• ExAC: 12:69140364 C / CA
• gnomAD v2: 12-69140364-C-CA
• gnomAD v4: 12-68746584-C-CA
• MyVariant Identifiers: chr12:g.69140364_69140365insA (hg19) ; chr12:g.68746584_68746585insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68746588dup , CM000674.2:g.68746588dup	GRCh38
NC_000012.11:g.69140368dup , CM000674.1:g.69140368dup	GRCh37
NC_000012.10:g.67426635dup	NCBI36
NG_046600.2:g.64638dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319429.7:n.454dup
ENST00000398004.4:c.211dup MANE Select	ENSP00000381089.2:p.Ser71LysfsTer22
ENST00000673712.1:c.211dup	ENSP00000501065.1:p.Ser71LysfsTer22
ENST00000674096.1:c.211dup	ENSP00000501130.1:p.Ser71LysfsTer22
ENST00000398004.3:c.211dup	ENSP00000381089.2:p.Ser71LysfsTer22
NM_018656.2:c.211dup	NP_061126.2:p.Ser71LysfsTer22
XM_005269006.2:c.211dup	XP_005269063.1:p.Ser71LysfsTer22
NM_001354997.1:c.211dup	NP_001341926.1:p.Ser71LysfsTer22
NM_001354998.1:c.211dup	NP_001341927.1:p.Ser71LysfsTer22
NM_018656.3:c.211dup	NP_061126.2:p.Ser71LysfsTer22
NR_149143.1:n.503dup
NR_149144.1:n.503dup
NM_001354997.3:c.211dup	NP_001341926.1:p.Ser71LysfsTer22
NM_001354998.2:c.211dup	NP_001341927.1:p.Ser71LysfsTer22
NM_018656.5:c.211dup MANE Select	NP_061126.2:p.Ser71LysfsTer22
NR_149143.3:n.413dup
NR_149144.3:n.413dup