Canonical Allele Identifier: CA2591099

Gene: UROC1

Linked Data

• ClinVar Variation Id: 377361
• ClinVar RCV Id: RCV000419129
• dbSNP Id: rs201724997
• ExAC: 3:126218210 C / T
• gnomAD v2: 3-126218210-C-T
• gnomAD v3: 3-126499367-C-T
• gnomAD v4: 3-126499367-C-T
• MyVariant Identifiers: chr3:g.126218210C>T (hg19) ; chr3:g.126499367C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126499367C>T , CM000665.2:g.126499367C>T	GRCh38
NC_000003.11:g.126218210C>T , CM000665.1:g.126218210C>T	GRCh37
NC_000003.10:g.127700900C>T	NCBI36
NG_016286.1:g.23385G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290868.7:c.1286G>A MANE Select	ENSP00000290868.2:p.Arg429His
ENST00000290868.6:c.1286G>A	ENSP00000290868.2:p.Arg429His
ENST00000383579.3:c.1466G>A	ENSP00000373073.3:p.Arg489His
NM_001165974.1:c.1466G>A	NP_001159446.1:p.Arg489His
NM_144639.2:c.1286G>A	NP_653240.1:p.Arg429His
NM_144639.3:c.1286G>A MANE Select	NP_653240.1:p.Arg429His
NM_001165974.2:c.1466G>A	NP_001159446.1:p.Arg489His