Canonical Allele Identifier: CA1398971121

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737874T= , CM000665.2:g.124737874T=	GRCh38
NC_000003.11:g.124456721T= , CM000665.1:g.124456721T=	GRCh37
NC_000003.10:g.125939411T=	NCBI36
NG_017037.1:g.12509T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.617T= MANE Select	ENSP00000232607.2:p.Phe206=
ENST00000232607.6:c.617T=	ENSP00000232607.2:p.Phe206=
ENST00000460034.5:c.*361T=	ENSP00000420409.1:n.*361T=
ENST00000462091.5:c.*289T=	ENSP00000417893.1:n.*289T=
ENST00000467167.5:c.*515T=	ENSP00000419618.1:n.*515T=
ENST00000474588.5:c.311-41T=	ENSP00000420348.1:n.311-41T=
ENST00000479719.5:c.617T=	ENSP00000420754.1:p.Phe206=
ENST00000497791.5:c.*289T=	ENSP00000419121.1:n.*289T=
ENST00000498715.1:n.335T=
NM_000373.3:c.617T=	NP_000364.1:p.Phe206=
NR_033434.1:n.569T=
NR_033437.1:n.822T=
XR_001740253.2:n.647T=
NM_000373.4:c.617T= MANE Select	NP_000364.1:p.Phe206=
NR_033434.2:n.483T=
NR_033437.2:n.736T=