Canonical Allele Identifier: CA354274072

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456621G>T (hg19) ; chr3:g.124737774G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737774G>T , CM000665.2:g.124737774G>T	GRCh38
NC_000003.11:g.124456621G>T , CM000665.1:g.124456621G>T	GRCh37
NC_000003.10:g.125939311G>T	NCBI36
NG_017037.1:g.12409G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.517G>T MANE Select	ENSP00000232607.2:p.Val173Leu
ENST00000232607.6:c.517G>T	ENSP00000232607.2:p.Val173Leu
ENST00000460034.5:c.*261G>T	ENSP00000420409.1:n.*261G>T
ENST00000462091.5:c.*189G>T	ENSP00000417893.1:n.*189G>T
ENST00000467167.5:c.*415G>T	ENSP00000419618.1:n.*415G>T
ENST00000474588.5:c.311-141G>T	ENSP00000420348.1:n.311-141G>T
ENST00000479719.5:c.517G>T	ENSP00000420754.1:p.Val173Leu
ENST00000497791.5:c.*189G>T	ENSP00000419121.1:n.*189G>T
ENST00000498715.1:n.235G>T
NM_000373.3:c.517G>T	NP_000364.1:p.Val173Leu
NR_033434.1:n.469G>T
NR_033437.1:n.722G>T
XR_001740253.2:n.547G>T
NM_000373.4:c.517G>T MANE Select	NP_000364.1:p.Val173Leu
NR_033434.2:n.383G>T
NR_033437.2:n.636G>T