Canonical Allele Identifier: CA435434153

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456462T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737615T>C , CM000665.2:g.124737615T>C	GRCh38
NC_000003.11:g.124456462T>C , CM000665.1:g.124456462T>C	GRCh37
NC_000003.10:g.125939152T>C	NCBI36
NG_017037.1:g.12250T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.358T>C MANE Select	ENSP00000232607.2:p.Leu120=
ENST00000232607.6:c.358T>C	ENSP00000232607.2:p.Leu120=
ENST00000460034.5:c.*102T>C	ENSP00000420409.1:n.*102T>C
ENST00000462091.5:c.*30T>C	ENSP00000417893.1:n.*30T>C
ENST00000467167.5:c.*256T>C	ENSP00000419618.1:n.*256T>C
ENST00000474588.5:c.311-300T>C	ENSP00000420348.1:n.311-300T>C
ENST00000479719.5:c.358T>C	ENSP00000420754.1:p.Leu120=
ENST00000497791.5:c.*30T>C	ENSP00000419121.1:n.*30T>C
ENST00000498715.1:n.76T>C
NM_000373.3:c.358T>C	NP_000364.1:p.Leu120=
NR_033434.1:n.310T>C
NR_033437.1:n.563T>C
XR_001740253.2:n.388T>C
NM_000373.4:c.358T>C MANE Select	NP_000364.1:p.Leu120=
NR_033434.2:n.224T>C
NR_033437.2:n.477T>C