Canonical Allele Identifier: CA354272860

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456467C>G (hg19) ; chr3:g.124737620C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737620C>G , CM000665.2:g.124737620C>G	GRCh38
NC_000003.11:g.124456467C>G , CM000665.1:g.124456467C>G	GRCh37
NC_000003.10:g.125939157C>G	NCBI36
NG_017037.1:g.12255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.363C>G MANE Select	ENSP00000232607.2:p.Ile121Met
ENST00000232607.6:c.363C>G	ENSP00000232607.2:p.Ile121Met
ENST00000460034.5:c.*107C>G	ENSP00000420409.1:n.*107C>G
ENST00000462091.5:c.*35C>G	ENSP00000417893.1:n.*35C>G
ENST00000467167.5:c.*261C>G	ENSP00000419618.1:n.*261C>G
ENST00000474588.5:c.311-295C>G	ENSP00000420348.1:n.311-295C>G
ENST00000479719.5:c.363C>G	ENSP00000420754.1:p.Ile121Met
ENST00000497791.5:c.*35C>G	ENSP00000419121.1:n.*35C>G
ENST00000498715.1:n.81C>G
NM_000373.3:c.363C>G	NP_000364.1:p.Ile121Met
NR_033434.1:n.315C>G
NR_033437.1:n.568C>G
XR_001740253.2:n.393C>G
NM_000373.4:c.363C>G MANE Select	NP_000364.1:p.Ile121Met
NR_033434.2:n.229C>G
NR_033437.2:n.482C>G