Canonical Allele Identifier: CA546412876

Gene: UMPS

Linked Data

• dbSNP Id: rs1380727367
• gnomAD v2: 3-124456273-T-C
• gnomAD v3: 3-124737426-T-C
• gnomAD v4: 3-124737426-T-C
• MyVariant Identifiers: chr3:g.124456273T>C (hg19) ; chr3:g.124737426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737426T>C , CM000665.2:g.124737426T>C	GRCh38
NC_000003.11:g.124456273T>C , CM000665.1:g.124456273T>C	GRCh37
NC_000003.10:g.125938963T>C	NCBI36
NG_017037.1:g.12061T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.311-142T>C MANE Select	ENSP00000232607.2:n.311-142T>C
ENST00000232607.6:c.311-142T>C	ENSP00000232607.2:n.311-142T>C
ENST00000460034.5:c.*55-142T>C	ENSP00000420409.1:n.*55-142T>C
ENST00000462091.5:c.157-142T>C	ENSP00000417893.1:n.157-142T>C
ENST00000467167.5:c.*209-142T>C	ENSP00000419618.1:n.*209-142T>C
ENST00000474588.5:c.311-489T>C	ENSP00000420348.1:n.311-489T>C
ENST00000479719.5:c.311-142T>C	ENSP00000420754.1:n.311-142T>C
ENST00000497791.5:c.157-142T>C	ENSP00000419121.1:n.157-142T>C
ENST00000498715.1:n.29-142T>C
NM_000373.3:c.311-142T>C	NP_000364.1:n.311-142T>C
NR_033434.1:n.263-142T>C
NR_033437.1:n.516-142T>C
XR_001740253.2:n.341-142T>C
NM_000373.4:c.311-142T>C MANE Select	NP_000364.1:n.311-142T>C
NR_033434.2:n.177-142T>C
NR_033437.2:n.430-142T>C