Canonical Allele Identifier: CA354272766

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456448C>T (hg19) ; chr3:g.124737601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737601C>T , CM000665.2:g.124737601C>T	GRCh38
NC_000003.11:g.124456448C>T , CM000665.1:g.124456448C>T	GRCh37
NC_000003.10:g.125939138C>T	NCBI36
NG_017037.1:g.12236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.344C>T MANE Select	ENSP00000232607.2:p.Pro115Leu
ENST00000232607.6:c.344C>T	ENSP00000232607.2:p.Pro115Leu
ENST00000460034.5:c.*88C>T	ENSP00000420409.1:n.*88C>T
ENST00000462091.5:c.*16C>T	ENSP00000417893.1:n.*16C>T
ENST00000467167.5:c.*242C>T	ENSP00000419618.1:n.*242C>T
ENST00000474588.5:c.311-314C>T	ENSP00000420348.1:n.311-314C>T
ENST00000479719.5:c.344C>T	ENSP00000420754.1:p.Pro115Leu
ENST00000497791.5:c.*16C>T	ENSP00000419121.1:n.*16C>T
ENST00000498715.1:n.62C>T
NM_000373.3:c.344C>T	NP_000364.1:p.Pro115Leu
NR_033434.1:n.296C>T
NR_033437.1:n.549C>T
XR_001740253.2:n.374C>T
NM_000373.4:c.344C>T MANE Select	NP_000364.1:p.Pro115Leu
NR_033434.2:n.210C>T
NR_033437.2:n.463C>T