Canonical Allele Identifier: CA1398971042

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737617A= , CM000665.2:g.124737617A=	GRCh38
NC_000003.11:g.124456464A= , CM000665.1:g.124456464A=	GRCh37
NC_000003.10:g.125939154A=	NCBI36
NG_017037.1:g.12252A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.360A= MANE Select	ENSP00000232607.2:p.Leu120=
ENST00000232607.6:c.360A=	ENSP00000232607.2:p.Leu120=
ENST00000460034.5:c.*104A=	ENSP00000420409.1:n.*104A=
ENST00000462091.5:c.*32A=	ENSP00000417893.1:n.*32A=
ENST00000467167.5:c.*258A=	ENSP00000419618.1:n.*258A=
ENST00000474588.5:c.311-298A=	ENSP00000420348.1:n.311-298A=
ENST00000479719.5:c.360A=	ENSP00000420754.1:p.Leu120=
ENST00000497791.5:c.*32A=	ENSP00000419121.1:n.*32A=
ENST00000498715.1:n.78A=
NM_000373.3:c.360A=	NP_000364.1:p.Leu120=
NR_033434.1:n.312A=
NR_033437.1:n.565A=
XR_001740253.2:n.390A=
NM_000373.4:c.360A= MANE Select	NP_000364.1:p.Leu120=
NR_033434.2:n.226A=
NR_033437.2:n.479A=