Canonical Allele Identifier: CA474036520

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 2768721
• ClinVar RCV Id: RCV003503438
• dbSNP Id: rs2085868285
• gnomAD v3: 11-45805984-C-T
• gnomAD v4: 11-45805984-C-T
• MyVariant Identifiers: chr11:g.45827535C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45805984C>T , CM000673.2:g.45805984C>T	GRCh38
NC_000011.9:g.45827535C>T , CM000673.1:g.45827535C>T	GRCh37
NC_000011.8:g.45784111C>T	NCBI36
NG_009875.1:g.6913C>T , LRG_107:g.6913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.144C>T	ENSP00000432145.2:p.Tyr48=
ENST00000314134.4:c.183C>T MANE Select	ENSP00000313318.3:p.Tyr61=
ENST00000314134.3:c.183C>T	ENSP00000313318.3:p.Tyr61=
ENST00000442528.2:c.144C>T	ENSP00000412408.2:p.Tyr48=
ENST00000526817.1:c.144C>T	ENSP00000432145.1:p.Tyr48=
ENST00000530471.1:c.144C>T	ENSP00000432669.1:p.Tyr48=
NM_001145265.1:c.144C>T	NP_001138737.1:p.Tyr48=
NM_001145266.1:c.144C>T	NP_001138738.1:p.Tyr48=
NM_018389.4:c.183C>T , LRG_107t1:c.183C>T	NP_060859.4:p.Tyr61=
XM_011520203.1:c.183C>T	XP_011518505.1:p.Tyr61=
XM_011520203.3:c.183C>T	XP_011518505.1:p.Tyr61=
NM_001145265.2:c.144C>T	NP_001138737.1:p.Tyr48=
NM_018389.5:c.183C>T MANE Select	NP_060859.4:p.Tyr61=