Canonical Allele Identifier: CA5958173

Gene: SLC35C1

Linked Data

• dbSNP Id: rs768517924
• ExAC: 11:45827403 C / A
• gnomAD v2: 11-45827403-C-A
• gnomAD v4: 11-45805852-C-A
• MyVariant Identifiers: chr11:g.45827403C>A (hg19) ; chr11:g.45805852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805852C>A , CM000673.2:g.45805852C>A	GRCh38
NC_000011.9:g.45827403C>A , CM000673.1:g.45827403C>A	GRCh37
NC_000011.8:g.45783979C>A	NCBI36
NG_009875.1:g.6781C>A , LRG_107:g.6781C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.12C>A	ENSP00000432145.2:p.Thr4=
ENST00000314134.4:c.51C>A MANE Select	ENSP00000313318.3:p.Thr17=
ENST00000314134.3:c.51C>A	ENSP00000313318.3:p.Thr17=
ENST00000442528.2:c.12C>A	ENSP00000412408.2:p.Thr4=
ENST00000526817.1:c.12C>A	ENSP00000432145.1:p.Thr4=
ENST00000530471.1:c.12C>A	ENSP00000432669.1:p.Thr4=
NM_001145265.1:c.12C>A	NP_001138737.1:p.Thr4=
NM_001145266.1:c.12C>A	NP_001138738.1:p.Thr4=
NM_018389.4:c.51C>A , LRG_107t1:c.51C>A	NP_060859.4:p.Thr17=
XM_011520203.1:c.51C>A	XP_011518505.1:p.Thr17=
XM_011520203.3:c.51C>A	XP_011518505.1:p.Thr17=
NM_001145265.2:c.12C>A	NP_001138737.1:p.Thr4=
NM_018389.5:c.51C>A MANE Select	NP_060859.4:p.Thr17=