Canonical Allele Identifier: CA380202521

Gene: SLC35C1

Linked Data

• ClinVar Variation Id: 941811
• ClinVar RCV Id: RCV001211667
• dbSNP Id: rs1184839008
• gnomAD v2: 11-45827572-A-G
• gnomAD v3: 11-45806021-A-G
• gnomAD v4: 11-45806021-A-G
• MyVariant Identifiers: chr11:g.45827572A>G (hg19) ; chr11:g.45806021A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45806021A>G , CM000673.2:g.45806021A>G	GRCh38
NC_000011.9:g.45827572A>G , CM000673.1:g.45827572A>G	GRCh37
NC_000011.8:g.45784148A>G	NCBI36
NG_009875.1:g.6950A>G , LRG_107:g.6950A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000526817.2:c.181A>G	ENSP00000432145.2:p.Ile61Val
ENST00000314134.4:c.220A>G MANE Select	ENSP00000313318.3:p.Ile74Val
ENST00000314134.3:c.220A>G	ENSP00000313318.3:p.Ile74Val
ENST00000442528.2:c.181A>G	ENSP00000412408.2:p.Ile61Val
ENST00000526817.1:c.181A>G	ENSP00000432145.1:p.Ile61Val
ENST00000530471.1:c.181A>G	ENSP00000432669.1:p.Ile61Val
NM_001145265.1:c.181A>G	NP_001138737.1:p.Ile61Val
NM_001145266.1:c.181A>G	NP_001138738.1:p.Ile61Val
NM_018389.4:c.220A>G , LRG_107t1:c.220A>G	NP_060859.4:p.Ile74Val
XM_011520203.1:c.220A>G	XP_011518505.1:p.Ile74Val
XM_011520203.3:c.220A>G	XP_011518505.1:p.Ile74Val
NM_001145265.2:c.181A>G	NP_001138737.1:p.Ile61Val
NM_018389.5:c.220A>G MANE Select	NP_060859.4:p.Ile74Val