Canonical Allele Identifier: CA354338998
Gene: UROC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.126229562G>T (hg19) chr3:g.126510719G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126510719G>T , CM000665.2:g.126510719G>T GRCh38
NC_000003.11:g.126229562G>T , CM000665.1:g.126229562G>T GRCh37
NC_000003.10:g.127712252G>T NCBI36
NG_016286.1:g.12033C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000290868.7:c.202C>A MANE Select ENSP00000290868.2:p.Leu68Met
ENST00000290868.6:c.202C>A ENSP00000290868.2:p.Leu68Met
ENST00000383579.3:c.202C>A ENSP00000373073.3:p.Leu68Met
NM_001165974.1:c.202C>A NP_001159446.1:p.Leu68Met
NM_144639.2:c.202C>A NP_653240.1:p.Leu68Met
NM_144639.3:c.202C>A MANE Select NP_653240.1:p.Leu68Met
NM_001165974.2:c.202C>A NP_001159446.1:p.Leu68Met
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