Canonical Allele Identifier: CA2582161

Gene: UMPS

Linked Data

• ClinVar Variation Id: 343029
• ClinVar RCV Id: RCV000301798
• dbSNP Id: rs180944864
• ExAC: 3:124467275 T / C
• gnomAD v2: 3-124467275-T-C
• gnomAD v3: 3-124748428-T-C
• gnomAD v4: 3-124748428-T-C
• MyVariant Identifiers: chr3:g.124467275T>C (hg19) ; chr3:g.124748428T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124748428T>C , CM000665.2:g.124748428T>C	GRCh38
NC_000003.11:g.124467275T>C , CM000665.1:g.124467275T>C	GRCh37
NC_000003.10:g.125949965T>C	NCBI36
NG_017037.1:g.23063T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.*4344T>C MANE Select	ENSP00000232607.2:n.*4344T>C
ENST00000232607.6:c.*4344T>C	ENSP00000232607.2:n.*4344T>C
NM_000373.3:c.*4344T>C	NP_000364.1:n.*4344T>C
NR_033434.1:n.5739T>C
NR_033437.1:n.5992T>C
XR_001740253.2:n.6021T>C
NM_000373.4:c.*4344T>C MANE Select	NP_000364.1:n.*4344T>C
NR_033434.2:n.5653T>C
NR_033437.2:n.5906T>C