Canonical Allele Identifier: CA2581554

Gene: UMPS

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124730489A>G , CM000665.2:g.124730489A>G	GRCh38
NC_000003.11:g.124449336A>G , CM000665.1:g.124449336A>G	GRCh37
NC_000003.10:g.125932026A>G	NCBI36
NG_017037.1:g.5124A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000373.4:c.18A>G MANE Select	NP_000364.1:p.Ala6=
ENST00000232607.7:c.18A>G MANE Select	ENSP00000232607.2:p.Ala6=
NM_000373.3:c.18A>G	NP_000364.1:p.Ala6=
NR_033434.1:n.124A>G
NR_033434.2:n.38A>G
NR_033437.1:n.124A>G
NR_033437.2:n.38A>G
ENST00000232607.6:c.18A>G	ENSP00000232607.2:p.Ala6=
ENST00000460034.5:c.18A>G	ENSP00000420409.1:p.Ala6=
ENST00000462091.5:c.18A>G	ENSP00000417893.1:p.Ala6=
ENST00000467167.5:c.18A>G	ENSP00000419618.1:p.Ala6=
ENST00000474588.5:c.18A>G	ENSP00000420348.1:p.Ala6=
ENST00000479719.5:c.18A>G	ENSP00000420754.1:p.Ala6=
ENST00000497791.5:c.18A>G	ENSP00000419121.1:p.Ala6=
ENST00000628619.1:c.18A>G	ENSP00000486143.1:p.Ala6=
XR_001740253.2:n.48A>G