Canonical Allele Identifier: CA5958227
Gene: SLC35C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1949767
ClinVar RCV Id: RCV002676467
dbSNP Id: rs747835712

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45806145G>A , CM000673.2:g.45806145G>A GRCh38
NC_000011.9:g.45827696G>A , CM000673.1:g.45827696G>A GRCh37
NC_000011.8:g.45784272G>A NCBI36
NG_009875.1:g.7074G>A , LRG_107:g.7074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000526817.2:c.305G>A ENSP00000432145.2:p.Arg102His
ENST00000314134.4:c.344G>A MANE Select ENSP00000313318.3:p.Arg115His
ENST00000314134.3:c.344G>A ENSP00000313318.3:p.Arg115His
ENST00000442528.2:c.305G>A ENSP00000412408.2:p.Arg102His
ENST00000530471.1:c.305G>A ENSP00000432669.1:p.Arg102His
NM_001145265.1:c.305G>A NP_001138737.1:p.Arg102His
NM_001145266.1:c.305G>A NP_001138738.1:p.Arg102His
NM_018389.4:c.344G>A , LRG_107t1:c.344G>A NP_060859.4:p.Arg115His
XM_011520203.1:c.344G>A XP_011518505.1:p.Arg115His
XM_011520203.3:c.344G>A XP_011518505.1:p.Arg115His
NM_001145265.2:c.305G>A NP_001138737.1:p.Arg102His
NM_018389.5:c.344G>A MANE Select NP_060859.4:p.Arg115His