Canonical Allele Identifier: CA2581574

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124730576C>T , CM000665.2:g.124730576C>T	GRCh38
NC_000003.11:g.124449423C>T , CM000665.1:g.124449423C>T	GRCh37
NC_000003.10:g.125932113C>T	NCBI36
NG_017037.1:g.5211C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000373.4:c.105C>T MANE Select	NP_000364.1:p.Pro35=
ENST00000232607.7:c.105C>T MANE Select	ENSP00000232607.2:p.Pro35=
NM_000373.3:c.105C>T	NP_000364.1:p.Pro35=
NR_033434.1:n.211C>T
NR_033434.2:n.125C>T
NR_033437.1:n.211C>T
NR_033437.2:n.125C>T
ENST00000232607.6:c.105C>T	ENSP00000232607.2:p.Pro35=
ENST00000460034.5:c.105C>T	ENSP00000420409.1:p.Pro35=
ENST00000462091.5:c.105C>T	ENSP00000417893.1:p.Pro35=
ENST00000467167.5:c.105C>T	ENSP00000419618.1:p.Pro35=
ENST00000474588.5:c.105C>T	ENSP00000420348.1:p.Pro35=
ENST00000479719.5:c.105C>T	ENSP00000420754.1:p.Pro35=
ENST00000497791.5:c.105C>T	ENSP00000419121.1:p.Pro35=
ENST00000628619.1:c.105C>T	ENSP00000486143.1:p.Pro35=
XR_001740253.2:n.135C>T