Canonical Allele Identifier: CA1053236344

Gene: UROC1

Linked Data

• dbSNP Id: rs1936171409
• gnomAD v3: 3-126510639-T-G
• gnomAD v4: 3-126510639-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126510639T>G , CM000665.2:g.126510639T>G	GRCh38
NC_000003.11:g.126229482T>G , CM000665.1:g.126229482T>G	GRCh37
NC_000003.10:g.127712172T>G	NCBI36
NG_016286.1:g.12113A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290868.7:c.257+25A>C MANE Select	ENSP00000290868.2:n.257+25A>C
ENST00000290868.6:c.257+25A>C	ENSP00000290868.2:n.257+25A>C
ENST00000383579.3:c.257+25A>C	ENSP00000373073.3:n.257+25A>C
NM_001165974.1:c.257+25A>C	NP_001159446.1:n.257+25A>C
NM_144639.2:c.257+25A>C	NP_653240.1:n.257+25A>C
NM_144639.3:c.257+25A>C MANE Select	NP_653240.1:n.257+25A>C
NM_001165974.2:c.257+25A>C	NP_001159446.1:n.257+25A>C