Canonical Allele Identifier: CA2581735

Gene: UMPS

Linked Data

• ClinVar Variation Id: 342931
• ClinVar RCV Id: RCV000331596 ; RCV003258781
• dbSNP Id: rs375535366
• ExAC: 3:124457057 T / C
• gnomAD v2: 3-124457057-T-C
• gnomAD v3: 3-124738210-T-C
• gnomAD v4: 3-124738210-T-C
• MyVariant Identifiers: chr3:g.124457057T>C (hg19) ; chr3:g.124738210T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124738210T>C , CM000665.2:g.124738210T>C	GRCh38
NC_000003.11:g.124457057T>C , CM000665.1:g.124457057T>C	GRCh37
NC_000003.10:g.125939747T>C	NCBI36
NG_017037.1:g.12845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.953T>C MANE Select	ENSP00000232607.2:p.Ile318Thr
ENST00000232607.6:c.953T>C	ENSP00000232607.2:p.Ile318Thr
ENST00000460034.5:c.*697T>C	ENSP00000420409.1:n.*697T>C
ENST00000462091.5:c.*625T>C	ENSP00000417893.1:n.*625T>C
ENST00000467167.5:c.*851T>C	ENSP00000419618.1:n.*851T>C
ENST00000474588.5:c.*177T>C	ENSP00000420348.1:n.*177T>C
ENST00000479719.5:c.953T>C	ENSP00000420754.1:p.Ile318Thr
ENST00000487622.5:n.80T>C
ENST00000497791.5:c.*625T>C	ENSP00000419121.1:n.*625T>C
ENST00000498715.1:n.671T>C
NM_000373.3:c.953T>C	NP_000364.1:p.Ile318Thr
NR_033434.1:n.905T>C
NR_033437.1:n.1158T>C
XR_001740253.2:n.983T>C
NM_000373.4:c.953T>C MANE Select	NP_000364.1:p.Ile318Thr
NR_033434.2:n.819T>C
NR_033437.2:n.1072T>C