Canonical Allele Identifier: CA2581810

Gene: UMPS

Linked Data

• ClinVar Variation Id: 342933
• ClinVar RCV Id: RCV000332734 ; RCV001340094 ; RCV002520075
• dbSNP Id: rs202158549
• ExAC: 3:124459045 C / T
• gnomAD v2: 3-124459045-C-T
• gnomAD v3: 3-124740198-C-T
• gnomAD v4: 3-124740198-C-T
• MyVariant Identifiers: chr3:g.124459045C>T (hg19) ; chr3:g.124740198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124740198C>T , CM000665.2:g.124740198C>T	GRCh38
NC_000003.11:g.124459045C>T , CM000665.1:g.124459045C>T	GRCh37
NC_000003.10:g.125941735C>T	NCBI36
NG_017037.1:g.14833C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.1157C>T MANE Select	ENSP00000232607.2:p.Ala386Val
ENST00000232607.6:c.1157C>T	ENSP00000232607.2:p.Ala386Val
ENST00000460034.5:c.*901C>T	ENSP00000420409.1:n.*901C>T
ENST00000462091.5:c.*829C>T	ENSP00000417893.1:n.*829C>T
ENST00000467167.5:c.*1055C>T	ENSP00000419618.1:n.*1055C>T
ENST00000474588.5:c.*381C>T	ENSP00000420348.1:n.*381C>T
ENST00000479719.5:c.*332C>T	ENSP00000420754.1:n.*332C>T
ENST00000487622.5:n.284C>T
ENST00000495751.1:n.286C>T
ENST00000497791.5:c.*654+1959C>T	ENSP00000419121.1:n.*654+1959C>T
NM_000373.3:c.1157C>T	NP_000364.1:p.Ala386Val
NR_033434.1:n.1109C>T
NR_033437.1:n.1362C>T
XR_001740253.2:n.1391C>T
NM_000373.4:c.1157C>T MANE Select	NP_000364.1:p.Ala386Val
NR_033434.2:n.1023C>T
NR_033437.2:n.1276C>T