Canonical Allele Identifier: CA354272741

Gene: UMPS

Linked Data

• dbSNP Id: rs2063526594
• gnomAD v4: 3-124737597-A-C
• MyVariant Identifiers: chr3:g.124456444A>C (hg19) ; chr3:g.124737597A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124737597A>C , CM000665.2:g.124737597A>C	GRCh38
NC_000003.11:g.124456444A>C , CM000665.1:g.124456444A>C	GRCh37
NC_000003.10:g.125939134A>C	NCBI36
NG_017037.1:g.12232A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.340A>C MANE Select	ENSP00000232607.2:p.Asn114His
ENST00000232607.6:c.340A>C	ENSP00000232607.2:p.Asn114His
ENST00000460034.5:c.*84A>C	ENSP00000420409.1:n.*84A>C
ENST00000462091.5:c.*12A>C	ENSP00000417893.1:n.*12A>C
ENST00000467167.5:c.*238A>C	ENSP00000419618.1:n.*238A>C
ENST00000474588.5:c.311-318A>C	ENSP00000420348.1:n.311-318A>C
ENST00000479719.5:c.340A>C	ENSP00000420754.1:p.Asn114His
ENST00000497791.5:c.*12A>C	ENSP00000419121.1:n.*12A>C
ENST00000498715.1:n.58A>C
NM_000373.3:c.340A>C	NP_000364.1:p.Asn114His
NR_033434.1:n.292A>C
NR_033437.1:n.545A>C
XR_001740253.2:n.370A>C
NM_000373.4:c.340A>C MANE Select	NP_000364.1:p.Asn114His
NR_033434.2:n.206A>C
NR_033437.2:n.459A>C