Canonical Allele Identifier: CA2582115

Gene: UMPS

Linked Data

• ClinVar Variation Id: 343006
• ClinVar RCV Id: RCV000311137
• dbSNP Id: rs76151694
• ExAC: 3:124466307 C / T
• gnomAD v2: 3-124466307-C-T
• gnomAD v3: 3-124747460-C-T
• gnomAD v4: 3-124747460-C-T
• MyVariant Identifiers: chr3:g.124466307C>T (hg19) ; chr3:g.124466307_124466308delinsTG (hg19) ; chr3:g.124747460C>T (hg38) ; chr3:g.124747460_124747461delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124747460C>T , CM000665.2:g.124747460C>T	GRCh38
NC_000003.11:g.124466307C>T , CM000665.1:g.124466307C>T	GRCh37
NC_000003.10:g.125948997C>T	NCBI36
NG_017037.1:g.22095C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.*3376C>T MANE Select	ENSP00000232607.2:n.*3376C>T
ENST00000232607.6:c.*3376C>T	ENSP00000232607.2:n.*3376C>T
NM_000373.3:c.*3376C>T	NP_000364.1:n.*3376C>T
NR_033434.1:n.4771C>T
NR_033437.1:n.5024C>T
XR_001740253.2:n.5053C>T
NM_000373.4:c.*3376C>T MANE Select	NP_000364.1:n.*3376C>T
NR_033434.2:n.4685C>T
NR_033437.2:n.4938C>T