Canonical Allele Identifier: CA2577885775
Gene: UROC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126510632G>A , CM000665.2:g.126510632G>A GRCh38
NC_000003.11:g.126229475G>A , CM000665.1:g.126229475G>A GRCh37
NC_000003.10:g.127712165G>A NCBI36
NG_016286.1:g.12120C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290868.7:c.257+32C>T MANE Select ENSP00000290868.2:n.257+32C>T
ENST00000290868.6:c.257+32C>T ENSP00000290868.2:n.257+32C>T
ENST00000383579.3:c.257+32C>T ENSP00000373073.3:n.257+32C>T
NM_001165974.1:c.257+32C>T NP_001159446.1:n.257+32C>T
NM_144639.2:c.257+32C>T NP_653240.1:n.257+32C>T
NM_144639.3:c.257+32C>T MANE Select NP_653240.1:n.257+32C>T
NM_001165974.2:c.257+32C>T NP_001159446.1:n.257+32C>T
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