Canonical Allele Identifier: CA2581875

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124743961C>T , CM000665.2:g.124743961C>T	GRCh38
NC_000003.11:g.124462808C>T , CM000665.1:g.124462808C>T	GRCh37
NC_000003.10:g.125945498C>T	NCBI36
NG_017037.1:g.18596C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232607.7:c.1320C>T MANE Select	ENSP00000232607.2:p.Gly440=
ENST00000232607.6:c.1320C>T	ENSP00000232607.2:p.Gly440=
ENST00000460034.5:c.*1064C>T	ENSP00000420409.1:n.*1064C>T
ENST00000462091.5:c.*992C>T	ENSP00000417893.1:n.*992C>T
ENST00000467167.5:c.*1218C>T	ENSP00000419618.1:n.*1218C>T
ENST00000474588.5:c.*544C>T	ENSP00000420348.1:n.*544C>T
ENST00000479719.5:c.*495C>T	ENSP00000420754.1:n.*495C>T
ENST00000495751.1:n.449C>T
ENST00000497791.5:c.*701C>T	ENSP00000419121.1:n.*701C>T
NM_000373.3:c.1320C>T	NP_000364.1:p.Gly440=
NR_033434.1:n.1272C>T
NR_033437.1:n.1525C>T
XR_001740253.2:n.1554C>T
NM_000373.4:c.1320C>T MANE Select	NP_000364.1:p.Gly440=
NR_033434.2:n.1186C>T
NR_033437.2:n.1439C>T