Canonical Allele Identifier: CA354273254

Gene: UMPS

Linked Data

• MyVariant Identifiers: chr3:g.124456538A>C (hg19) ; chr3:g.124737691A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737691A>C , CM000665.2:g.124737691A>C	GRCh38
NC_000003.11:g.124456538A>C , CM000665.1:g.124456538A>C	GRCh37
NC_000003.10:g.125939228A>C	NCBI36
NG_017037.1:g.12326A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.434A>C MANE Select	ENSP00000232607.2:p.Lys145Thr
ENST00000232607.6:c.434A>C	ENSP00000232607.2:p.Lys145Thr
ENST00000460034.5:c.*178A>C	ENSP00000420409.1:n.*178A>C
ENST00000462091.5:c.*106A>C	ENSP00000417893.1:n.*106A>C
ENST00000467167.5:c.*332A>C	ENSP00000419618.1:n.*332A>C
ENST00000474588.5:c.311-224A>C	ENSP00000420348.1:n.311-224A>C
ENST00000479719.5:c.434A>C	ENSP00000420754.1:p.Lys145Thr
ENST00000497791.5:c.*106A>C	ENSP00000419121.1:n.*106A>C
ENST00000498715.1:n.152A>C
NM_000373.3:c.434A>C	NP_000364.1:p.Lys145Thr
NR_033434.1:n.386A>C
NR_033437.1:n.639A>C
XR_001740253.2:n.464A>C
NM_000373.4:c.434A>C MANE Select	NP_000364.1:p.Lys145Thr
NR_033434.2:n.300A>C
NR_033437.2:n.553A>C