Canonical Allele Identifier: CA354274365

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456648A>C (hg19) ; chr3:g.124737801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737801A>C , CM000665.2:g.124737801A>C	GRCh38
NC_000003.11:g.124456648A>C , CM000665.1:g.124456648A>C	GRCh37
NC_000003.10:g.125939338A>C	NCBI36
NG_017037.1:g.12436A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.544A>C MANE Select	ENSP00000232607.2:p.Ile182Leu
ENST00000232607.6:c.544A>C	ENSP00000232607.2:p.Ile182Leu
ENST00000460034.5:c.*288A>C	ENSP00000420409.1:n.*288A>C
ENST00000462091.5:c.*216A>C	ENSP00000417893.1:n.*216A>C
ENST00000467167.5:c.*442A>C	ENSP00000419618.1:n.*442A>C
ENST00000474588.5:c.311-114A>C	ENSP00000420348.1:n.311-114A>C
ENST00000479719.5:c.544A>C	ENSP00000420754.1:p.Ile182Leu
ENST00000497791.5:c.*216A>C	ENSP00000419121.1:n.*216A>C
ENST00000498715.1:n.262A>C
NM_000373.3:c.544A>C	NP_000364.1:p.Ile182Leu
NR_033434.1:n.496A>C
NR_033437.1:n.749A>C
XR_001740253.2:n.574A>C
NM_000373.4:c.544A>C MANE Select	NP_000364.1:p.Ile182Leu
NR_033434.2:n.410A>C
NR_033437.2:n.663A>C