Canonical Allele Identifier: CA380205592

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 2007772
• ClinVar RCV Id: RCV002833359
• gnomAD v4: 11-45810862-T-C
• MyVariant Identifiers: chr11:g.45832413T>C (hg19) ; chr11:g.45810862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45810862T>C , CM000673.2:g.45810862T>C	GRCh38
NC_000011.9:g.45832413T>C , CM000673.1:g.45832413T>C	GRCh37
NC_000011.8:g.45788989T>C	NCBI36
NG_009875.1:g.11791T>C , LRG_107:g.11791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.583T>C	ENSP00000432145.2:p.Cys195Arg
ENST00000314134.4:c.622T>C MANE Select	ENSP00000313318.3:p.Cys208Arg
ENST00000314134.3:c.622T>C	ENSP00000313318.3:p.Cys208Arg
ENST00000442528.2:c.583T>C	ENSP00000412408.2:p.Cys195Arg
NM_001145265.1:c.583T>C	NP_001138737.1:p.Cys195Arg
NM_001145266.1:c.583T>C	NP_001138738.1:p.Cys195Arg
NM_018389.4:c.622T>C , LRG_107t1:c.622T>C	NP_060859.4:p.Cys208Arg
XM_011520202.1:c.115T>C	XP_011518504.1:p.Cys39Arg
XM_011520202.2:c.115T>C	XP_011518504.1:p.Cys39Arg
NM_001145265.2:c.583T>C	NP_001138737.1:p.Cys195Arg
NM_018389.5:c.622T>C MANE Select	NP_060859.4:p.Cys208Arg