Canonical Allele Identifier: CA380202429
Gene: SLC35C1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45805973C>T , CM000673.2:g.45805973C>T GRCh38
NC_000011.9:g.45827524C>T , CM000673.1:g.45827524C>T GRCh37
NC_000011.8:g.45784100C>T NCBI36
NG_009875.1:g.6902C>T , LRG_107:g.6902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000526817.2:c.133C>T ENSP00000432145.2:p.Leu45Phe
ENST00000314134.4:c.172C>T MANE Select ENSP00000313318.3:p.Leu58Phe
ENST00000314134.3:c.172C>T ENSP00000313318.3:p.Leu58Phe
ENST00000442528.2:c.133C>T ENSP00000412408.2:p.Leu45Phe
ENST00000526817.1:c.133C>T ENSP00000432145.1:p.Leu45Phe
ENST00000530471.1:c.133C>T ENSP00000432669.1:p.Leu45Phe
NM_001145265.1:c.133C>T NP_001138737.1:p.Leu45Phe
NM_001145266.1:c.133C>T NP_001138738.1:p.Leu45Phe
NM_018389.4:c.172C>T , LRG_107t1:c.172C>T NP_060859.4:p.Leu58Phe
XM_011520203.1:c.172C>T XP_011518505.1:p.Leu58Phe
XM_011520203.3:c.172C>T XP_011518505.1:p.Leu58Phe
NM_001145265.2:c.133C>T NP_001138737.1:p.Leu45Phe
NM_018389.5:c.172C>T MANE Select NP_060859.4:p.Leu58Phe