Canonical Allele Identifier: CA83061203

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124744432C>T , CM000665.2:g.124744432C>T	GRCh38
NC_000003.11:g.124463279C>T , CM000665.1:g.124463279C>T	GRCh37
NC_000003.10:g.125945969C>T	NCBI36
NG_017037.1:g.19067C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000373.4:c.*348C>T MANE Select	NP_000364.1:n.*348C>T
ENST00000232607.7:c.*348C>T MANE Select	ENSP00000232607.2:n.*348C>T
NM_000373.3:c.*348C>T	NP_000364.1:n.*348C>T
NR_033434.1:n.1743C>T
NR_033434.2:n.1657C>T
NR_033437.1:n.1996C>T
NR_033437.2:n.1910C>T
ENST00000232607.6:c.*348C>T	ENSP00000232607.2:n.*348C>T
ENST00000460034.5:c.*1535C>T	ENSP00000420409.1:n.*1535C>T
ENST00000462091.5:c.*1463C>T	ENSP00000417893.1:n.*1463C>T
ENST00000467167.5:c.*1689C>T	ENSP00000419618.1:n.*1689C>T
ENST00000474588.5:c.*1015C>T	ENSP00000420348.1:n.*1015C>T
ENST00000479719.5:c.*966C>T	ENSP00000420754.1:n.*966C>T
ENST00000497791.5:c.*1172C>T	ENSP00000419121.1:n.*1172C>T
XR_001740253.2:n.2025C>T