Canonical Allele Identifier: CA5958210
Gene: SLC35C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 844083
ClinVar RCV Id: RCV001046850
dbSNP Id: rs150215024

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45806055C>T , CM000673.2:g.45806055C>T GRCh38
NC_000011.9:g.45827606C>T , CM000673.1:g.45827606C>T GRCh37
NC_000011.8:g.45784182C>T NCBI36
NG_009875.1:g.6984C>T , LRG_107:g.6984C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526817.2:c.215C>T ENSP00000432145.2:p.Thr72Met
ENST00000314134.4:c.254C>T MANE Select ENSP00000313318.3:p.Thr85Met
ENST00000314134.3:c.254C>T ENSP00000313318.3:p.Thr85Met
ENST00000442528.2:c.215C>T ENSP00000412408.2:p.Thr72Met
ENST00000526817.1:c.215C>T ENSP00000432145.1:p.Thr72Met
ENST00000530471.1:c.215C>T ENSP00000432669.1:p.Thr72Met
NM_001145265.1:c.215C>T NP_001138737.1:p.Thr72Met
NM_001145266.1:c.215C>T NP_001138738.1:p.Thr72Met
NM_018389.4:c.254C>T , LRG_107t1:c.254C>T NP_060859.4:p.Thr85Met
XM_011520203.1:c.254C>T XP_011518505.1:p.Thr85Met
XM_011520203.3:c.254C>T XP_011518505.1:p.Thr85Met
NM_001145265.2:c.215C>T NP_001138737.1:p.Thr72Met
NM_018389.5:c.254C>T MANE Select NP_060859.4:p.Thr85Met