Canonical Allele Identifier: CA83055615

Gene: UMPS

Linked Data

• dbSNP Id: rs957141218
• gnomAD v2: 3-124456360-C-T
• gnomAD v3: 3-124737513-C-T
• gnomAD v4: 3-124737513-C-T
• MyVariant Identifiers: chr3:g.124456360C>T (hg19) ; chr3:g.124737513C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737513C>T , CM000665.2:g.124737513C>T	GRCh38
NC_000003.11:g.124456360C>T , CM000665.1:g.124456360C>T	GRCh37
NC_000003.10:g.125939050C>T	NCBI36
NG_017037.1:g.12148C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-55C>T MANE Select	ENSP00000232607.2:n.311-55C>T
ENST00000232607.6:c.311-55C>T	ENSP00000232607.2:n.311-55C>T
ENST00000460034.5:c.*55-55C>T	ENSP00000420409.1:n.*55-55C>T
ENST00000462091.5:c.157-55C>T	ENSP00000417893.1:n.157-55C>T
ENST00000467167.5:c.*209-55C>T	ENSP00000419618.1:n.*209-55C>T
ENST00000474588.5:c.311-402C>T	ENSP00000420348.1:n.311-402C>T
ENST00000479719.5:c.311-55C>T	ENSP00000420754.1:n.311-55C>T
ENST00000497791.5:c.157-55C>T	ENSP00000419121.1:n.157-55C>T
ENST00000498715.1:n.29-55C>T
NM_000373.3:c.311-55C>T	NP_000364.1:n.311-55C>T
NR_033434.1:n.263-55C>T
NR_033437.1:n.516-55C>T
XR_001740253.2:n.341-55C>T
NM_000373.4:c.311-55C>T MANE Select	NP_000364.1:n.311-55C>T
NR_033434.2:n.177-55C>T
NR_033437.2:n.430-55C>T