Canonical Allele Identifier: CA354272713

Gene: UMPS

Linked Data

• gnomAD v4: 3-124737592-C-G
• MyVariant Identifiers: chr3:g.124456439C>G (hg19) ; chr3:g.124737592C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737592C>G , CM000665.2:g.124737592C>G	GRCh38
NC_000003.11:g.124456439C>G , CM000665.1:g.124456439C>G	GRCh37
NC_000003.10:g.125939129C>G	NCBI36
NG_017037.1:g.12227C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.335C>G MANE Select	ENSP00000232607.2:p.Thr112Ser
ENST00000232607.6:c.335C>G	ENSP00000232607.2:p.Thr112Ser
ENST00000460034.5:c.*79C>G	ENSP00000420409.1:n.*79C>G
ENST00000462091.5:c.*7C>G	ENSP00000417893.1:n.*7C>G
ENST00000467167.5:c.*233C>G	ENSP00000419618.1:n.*233C>G
ENST00000474588.5:c.311-323C>G	ENSP00000420348.1:n.311-323C>G
ENST00000479719.5:c.335C>G	ENSP00000420754.1:p.Thr112Ser
ENST00000497791.5:c.*7C>G	ENSP00000419121.1:n.*7C>G
ENST00000498715.1:n.53C>G
NM_000373.3:c.335C>G	NP_000364.1:p.Thr112Ser
NR_033434.1:n.287C>G
NR_033437.1:n.540C>G
XR_001740253.2:n.365C>G
NM_000373.4:c.335C>G MANE Select	NP_000364.1:p.Thr112Ser
NR_033434.2:n.201C>G
NR_033437.2:n.454C>G