Canonical Allele Identifier: CA354338989
Gene: UROC1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126510715T>C , CM000665.2:g.126510715T>C GRCh38
NC_000003.11:g.126229558T>C , CM000665.1:g.126229558T>C GRCh37
NC_000003.10:g.127712248T>C NCBI36
NG_016286.1:g.12037A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000290868.7:c.206A>G MANE Select ENSP00000290868.2:p.Gln69Arg
ENST00000290868.6:c.206A>G ENSP00000290868.2:p.Gln69Arg
ENST00000383579.3:c.206A>G ENSP00000373073.3:p.Gln69Arg
NM_001165974.1:c.206A>G NP_001159446.1:p.Gln69Arg
NM_144639.2:c.206A>G NP_653240.1:p.Gln69Arg
NM_144639.3:c.206A>G MANE Select NP_653240.1:p.Gln69Arg
NM_001165974.2:c.206A>G NP_001159446.1:p.Gln69Arg