Canonical Allele Identifier: CA2591628
Gene: UROC1 HGNC NCBI

Linked Data

dbSNP Id: rs759739721
ExAC: 3:126229468 C / A
gnomAD v2: 3-126229468-C-A
gnomAD v3: 3-126510625-C-A
gnomAD v4: 3-126510625-C-A
MyVariant Identifiers: chr3:g.126229468C>A (hg19) chr3:g.126510625C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.126510625C>A , CM000665.2:g.126510625C>A GRCh38
NC_000003.11:g.126229468C>A , CM000665.1:g.126229468C>A GRCh37
NC_000003.10:g.127712158C>A NCBI36
NG_016286.1:g.12127G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000290868.7:c.257+39G>T MANE Select ENSP00000290868.2:n.257+39G>T
ENST00000290868.6:c.257+39G>T ENSP00000290868.2:n.257+39G>T
ENST00000383579.3:c.257+39G>T ENSP00000373073.3:n.257+39G>T
NM_001165974.1:c.257+39G>T NP_001159446.1:n.257+39G>T
NM_144639.2:c.257+39G>T NP_653240.1:n.257+39G>T
NM_144639.3:c.257+39G>T MANE Select NP_653240.1:n.257+39G>T
NM_001165974.2:c.257+39G>T NP_001159446.1:n.257+39G>T
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