Canonical Allele Identifier: CA1968695268
Community Standard Title: NM_018389.5(SLC35C1):c.923C= (p.Thr308=)
Gene: SLC35C1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45811163C= , CM000673.2:g.45811163C= GRCh38
NC_000011.9:g.45832714C= , CM000673.1:g.45832714C= GRCh37
NC_000011.8:g.45789290C= NCBI36
NG_009875.1:g.12092C= , LRG_107:g.12092C=

Transcript Alleles

HGVS Amino-acid Change
NM_018389.5:c.923C= MANE Select NP_060859.4:p.Thr308=
ENST00000314134.4:c.923C= MANE Select ENSP00000313318.3:p.Thr308=
NM_001145265.1:c.884C= NP_001138737.1:p.Thr295=
NM_001145265.2:c.884C= NP_001138737.1:p.Thr295=
NM_001145266.1:c.884C= NP_001138738.1:p.Thr295=
NM_018389.4:c.923C= , LRG_107t1:c.923C= NP_060859.4:p.Thr308=
ENST00000314134.3:c.923C= ENSP00000313318.3:p.Thr308=
ENST00000442528.2:c.884C= ENSP00000412408.2:p.Thr295=
ENST00000526817.2:c.884C= ENSP00000432145.2:p.Thr295=
XM_011520202.1:c.416C= XP_011518504.1:p.Thr139=
XM_011520202.2:c.416C= XP_011518504.1:p.Thr139=