Canonical Allele Identifier: CA354338994
Gene: UROC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.126229561A>C (hg19) chr3:g.126510718A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126510718A>C , CM000665.2:g.126510718A>C GRCh38
NC_000003.11:g.126229561A>C , CM000665.1:g.126229561A>C GRCh37
NC_000003.10:g.127712251A>C NCBI36
NG_016286.1:g.12034T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290868.7:c.203T>G MANE Select ENSP00000290868.2:p.Leu68Arg
ENST00000290868.6:c.203T>G ENSP00000290868.2:p.Leu68Arg
ENST00000383579.3:c.203T>G ENSP00000373073.3:p.Leu68Arg
NM_001165974.1:c.203T>G NP_001159446.1:p.Leu68Arg
NM_144639.2:c.203T>G NP_653240.1:p.Leu68Arg
NM_144639.3:c.203T>G MANE Select NP_653240.1:p.Leu68Arg
NM_001165974.2:c.203T>G NP_001159446.1:p.Leu68Arg
Search 100 bp 5'
Search 100 bp 3'