Canonical Allele Identifier: CA5958168

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 2417630
• ClinVar RCV Id: RCV003115099
• dbSNP Id: rs376834333
• ExAC: 11:45827374 C / T
• gnomAD v2: 11-45827374-C-T
• gnomAD v4: 11-45805823-C-T
• MyVariant Identifiers: chr11:g.45827374C>T (hg19) ; chr11:g.45805823C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805823C>T , CM000673.2:g.45805823C>T	GRCh38
NC_000011.9:g.45827374C>T , CM000673.1:g.45827374C>T	GRCh37
NC_000011.8:g.45783950C>T	NCBI36
NG_009875.1:g.6752C>T , LRG_107:g.6752C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.-18C>T	ENSP00000432145.2:n.-18C>T
ENST00000314134.4:c.22C>T MANE Select	ENSP00000313318.3:p.Arg8Trp
ENST00000314134.3:c.22C>T	ENSP00000313318.3:p.Arg8Trp
ENST00000442528.2:c.-18C>T	ENSP00000412408.2:n.-18C>T
ENST00000526817.1:c.-18C>T	ENSP00000432145.1:n.-18C>T
ENST00000530471.1:c.-18C>T	ENSP00000432669.1:n.-18C>T
NM_001145265.1:c.-18C>T	NP_001138737.1:n.-18C>T
NM_001145266.1:c.-18C>T	NP_001138738.1:n.-18C>T
NM_018389.4:c.22C>T , LRG_107t1:c.22C>T	NP_060859.4:p.Arg8Trp
XM_011520203.1:c.22C>T	XP_011518505.1:p.Arg8Trp
XM_011520203.3:c.22C>T	XP_011518505.1:p.Arg8Trp
NM_001145265.2:c.-18C>T	NP_001138737.1:n.-18C>T
NM_018389.5:c.22C>T MANE Select	NP_060859.4:p.Arg8Trp