Canonical Allele Identifier: CA898340916

Gene: UMPS

Linked Data

• dbSNP Id: rs1276982307
• gnomAD v3: 3-124737404-A-G
• gnomAD v4: 3-124737404-A-G
• MyVariant Identifiers: chr3:g.124456251A>G (hg19) ; chr3:g.124737404A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737404A>G , CM000665.2:g.124737404A>G	GRCh38
NC_000003.11:g.124456251A>G , CM000665.1:g.124456251A>G	GRCh37
NC_000003.10:g.125938941A>G	NCBI36
NG_017037.1:g.12039A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.311-164A>G MANE Select	ENSP00000232607.2:n.311-164A>G
ENST00000232607.6:c.311-164A>G	ENSP00000232607.2:n.311-164A>G
ENST00000460034.5:c.*55-164A>G	ENSP00000420409.1:n.*55-164A>G
ENST00000462091.5:c.157-164A>G	ENSP00000417893.1:n.157-164A>G
ENST00000467167.5:c.*209-164A>G	ENSP00000419618.1:n.*209-164A>G
ENST00000474588.5:c.311-511A>G	ENSP00000420348.1:n.311-511A>G
ENST00000479719.5:c.311-164A>G	ENSP00000420754.1:n.311-164A>G
ENST00000497791.5:c.157-164A>G	ENSP00000419121.1:n.157-164A>G
ENST00000498715.1:n.29-164A>G
NM_000373.3:c.311-164A>G	NP_000364.1:n.311-164A>G
NR_033434.1:n.263-164A>G
NR_033437.1:n.516-164A>G
XR_001740253.2:n.341-164A>G
NM_000373.4:c.311-164A>G MANE Select	NP_000364.1:n.311-164A>G
NR_033434.2:n.177-164A>G
NR_033437.2:n.430-164A>G