Canonical Allele Identifier: CA2581718

Gene: UMPS

Linked Data

• ClinVar Variation Id: 342930
• ClinVar RCV Id: RCV000271631 ; RCV000489675 ; RCV000814195
• dbSNP Id: rs200305064
• ExAC: 3:124456961 T / A
• gnomAD v2: 3-124456961-T-A
• gnomAD v3: 3-124738114-T-A
• gnomAD v4: 3-124738114-T-A
• MyVariant Identifiers: chr3:g.124456961T>A (hg19) ; chr3:g.124738114T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.124738114T>A , CM000665.2:g.124738114T>A	GRCh38
NC_000003.11:g.124456961T>A , CM000665.1:g.124456961T>A	GRCh37
NC_000003.10:g.125939651T>A	NCBI36
NG_017037.1:g.12749T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000232607.7:c.857T>A MANE Select	ENSP00000232607.2:p.Ile286Asn
ENST00000232607.6:c.857T>A	ENSP00000232607.2:p.Ile286Asn
ENST00000460034.5:c.*601T>A	ENSP00000420409.1:n.*601T>A
ENST00000462091.5:c.*529T>A	ENSP00000417893.1:n.*529T>A
ENST00000467167.5:c.*755T>A	ENSP00000419618.1:n.*755T>A
ENST00000474588.5:c.*81T>A	ENSP00000420348.1:n.*81T>A
ENST00000479719.5:c.857T>A	ENSP00000420754.1:p.Ile286Asn
ENST00000497791.5:c.*529T>A	ENSP00000419121.1:n.*529T>A
ENST00000498715.1:n.575T>A
NM_000373.3:c.857T>A	NP_000364.1:p.Ile286Asn
NR_033434.1:n.809T>A
NR_033437.1:n.1062T>A
XR_001740253.2:n.887T>A
NM_000373.4:c.857T>A MANE Select	NP_000364.1:p.Ile286Asn
NR_033434.2:n.723T>A
NR_033437.2:n.976T>A