Canonical Allele Identifier: CA5958166

Gene: SLC35C1

Linked Data

• dbSNP Id: rs749571447
• ExAC: 11:45827352 C / CA
• gnomAD v2: 11-45827352-C-CA
• gnomAD v3: 11-45805801-C-CA
• gnomAD v4: 11-45805801-C-CA
• MyVariant Identifiers: chr11:g.45827352_45827353insA (hg19) ; chr11:g.45805801_45805802insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805802dup , CM000673.2:g.45805802dup	GRCh38
NC_000011.9:g.45827353dup , CM000673.1:g.45827353dup	GRCh37
NC_000011.8:g.45783929dup	NCBI36
NG_009875.1:g.6731dup , LRG_107:g.6731dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.-31-8dup	ENSP00000432145.2:n.-31-8dup
ENST00000314134.4:c.1dup MANE Select	ENSP00000313318.3:p.Met1AsnfsTer3
ENST00000314134.3:c.1dup	ENSP00000313318.3:p.Met1AsnfsTer3
ENST00000442528.2:c.-31-8dup	ENSP00000412408.2:n.-31-8dup
ENST00000526817.1:c.-31-8dup	ENSP00000432145.1:n.-31-8dup
ENST00000530471.1:c.-31-8dup	ENSP00000432669.1:n.-31-8dup
NM_001145265.1:c.-31-8dup	NP_001138737.1:n.-31-8dup
NM_001145266.1:c.-31-8dup	NP_001138738.1:n.-31-8dup
NM_018389.4:c.1dup , LRG_107t1:c.1dup	NP_060859.4:p.Met1AsnfsTer3
XM_011520203.1:c.1dup	XP_011518505.1:p.Met1AsnfsTer3
XM_011520203.3:c.1dup	XP_011518505.1:p.Met1AsnfsTer3
NM_001145265.2:c.-31-8dup	NP_001138737.1:n.-31-8dup
NM_018389.5:c.1dup MANE Select	NP_060859.4:p.Met1AsnfsTer3