Canonical Allele Identifier: CA5958193
Gene: SLC35C1 HGNC NCBI

Linked Data

ClinVar Variation Id: 304737
dbSNP Id: rs769916550

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45805952A>G , CM000673.2:g.45805952A>G GRCh38
NC_000011.9:g.45827503A>G , CM000673.1:g.45827503A>G GRCh37
NC_000011.8:g.45784079A>G NCBI36
NG_009875.1:g.6881A>G , LRG_107:g.6881A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000526817.2:c.112A>G ENSP00000432145.2:p.Thr38Ala
ENST00000314134.4:c.151A>G MANE Select ENSP00000313318.3:p.Thr51Ala
ENST00000314134.3:c.151A>G ENSP00000313318.3:p.Thr51Ala
ENST00000442528.2:c.112A>G ENSP00000412408.2:p.Thr38Ala
ENST00000526817.1:c.112A>G ENSP00000432145.1:p.Thr38Ala
ENST00000530471.1:c.112A>G ENSP00000432669.1:p.Thr38Ala
NM_001145265.1:c.112A>G NP_001138737.1:p.Thr38Ala
NM_001145266.1:c.112A>G NP_001138738.1:p.Thr38Ala
NM_018389.4:c.151A>G , LRG_107t1:c.151A>G NP_060859.4:p.Thr51Ala
XM_011520203.1:c.151A>G XP_011518505.1:p.Thr51Ala
XM_011520203.3:c.151A>G XP_011518505.1:p.Thr51Ala
NM_001145265.2:c.112A>G NP_001138737.1:p.Thr38Ala
NM_018389.5:c.151A>G MANE Select NP_060859.4:p.Thr51Ala