Canonical Allele Identifier: CA5958238

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 1464957
• ClinVar RCV Id: RCV001979251
• dbSNP Id: rs766282342
• ExAC: 11:45827759 A / G
• gnomAD v2: 11-45827759-A-G
• gnomAD v3: 11-45806208-A-G
• gnomAD v4: 11-45806208-A-G
• MyVariant Identifiers: chr11:g.45827759A>G (hg19) ; chr11:g.45806208A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806208A>G , CM000673.2:g.45806208A>G	GRCh38
NC_000011.9:g.45827759A>G , CM000673.1:g.45827759A>G	GRCh37
NC_000011.8:g.45784335A>G	NCBI36
NG_009875.1:g.7137A>G , LRG_107:g.7137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.368A>G	ENSP00000432145.2:p.Lys123Arg
ENST00000314134.4:c.407A>G MANE Select	ENSP00000313318.3:p.Lys136Arg
ENST00000314134.3:c.407A>G	ENSP00000313318.3:p.Lys136Arg
ENST00000442528.2:c.368A>G	ENSP00000412408.2:p.Lys123Arg
ENST00000530471.1:c.368A>G	ENSP00000432669.1:p.Lys123Arg
NM_001145265.1:c.368A>G	NP_001138737.1:p.Lys123Arg
NM_001145266.1:c.368A>G	NP_001138738.1:p.Lys123Arg
NM_018389.4:c.407A>G , LRG_107t1:c.407A>G	NP_060859.4:p.Lys136Arg
XM_011520203.1:c.407A>G	XP_011518505.1:p.Lys136Arg
XM_011520203.3:c.407A>G	XP_011518505.1:p.Lys136Arg
NM_001145265.2:c.368A>G	NP_001138737.1:p.Lys123Arg
NM_018389.5:c.407A>G MANE Select	NP_060859.4:p.Lys136Arg