Canonical Allele Identifier: CA354272877

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456470T>G (hg19) ; chr3:g.124737623T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737623T>G , CM000665.2:g.124737623T>G	GRCh38
NC_000003.11:g.124456470T>G , CM000665.1:g.124456470T>G	GRCh37
NC_000003.10:g.125939160T>G	NCBI36
NG_017037.1:g.12258T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.366T>G MANE Select	ENSP00000232607.2:p.Ile122Met
ENST00000232607.6:c.366T>G	ENSP00000232607.2:p.Ile122Met
ENST00000460034.5:c.*110T>G	ENSP00000420409.1:n.*110T>G
ENST00000462091.5:c.*38T>G	ENSP00000417893.1:n.*38T>G
ENST00000467167.5:c.*264T>G	ENSP00000419618.1:n.*264T>G
ENST00000474588.5:c.311-292T>G	ENSP00000420348.1:n.311-292T>G
ENST00000479719.5:c.366T>G	ENSP00000420754.1:p.Ile122Met
ENST00000497791.5:c.*38T>G	ENSP00000419121.1:n.*38T>G
ENST00000498715.1:n.84T>G
NM_000373.3:c.366T>G	NP_000364.1:p.Ile122Met
NR_033434.1:n.318T>G
NR_033437.1:n.571T>G
XR_001740253.2:n.396T>G
NM_000373.4:c.366T>G MANE Select	NP_000364.1:p.Ile122Met
NR_033434.2:n.232T>G
NR_033437.2:n.485T>G