Canonical Allele Identifier: CA354273020

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456499T>G (hg19) ; chr3:g.124737652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737652T>G , CM000665.2:g.124737652T>G	GRCh38
NC_000003.11:g.124456499T>G , CM000665.1:g.124456499T>G	GRCh37
NC_000003.10:g.125939189T>G	NCBI36
NG_017037.1:g.12287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.395T>G MANE Select	ENSP00000232607.2:p.Val132Gly
ENST00000232607.6:c.395T>G	ENSP00000232607.2:p.Val132Gly
ENST00000460034.5:c.*139T>G	ENSP00000420409.1:n.*139T>G
ENST00000462091.5:c.*67T>G	ENSP00000417893.1:n.*67T>G
ENST00000467167.5:c.*293T>G	ENSP00000419618.1:n.*293T>G
ENST00000474588.5:c.311-263T>G	ENSP00000420348.1:n.311-263T>G
ENST00000479719.5:c.395T>G	ENSP00000420754.1:p.Val132Gly
ENST00000497791.5:c.*67T>G	ENSP00000419121.1:n.*67T>G
ENST00000498715.1:n.113T>G
NM_000373.3:c.395T>G	NP_000364.1:p.Val132Gly
NR_033434.1:n.347T>G
NR_033437.1:n.600T>G
XR_001740253.2:n.425T>G
NM_000373.4:c.395T>G MANE Select	NP_000364.1:p.Val132Gly
NR_033434.2:n.261T>G
NR_033437.2:n.514T>G