Canonical Allele Identifier: CA10043249

Gene: UBASH3A

Linked Data

• ClinVar Variation Id: 2604599
• ClinVar RCV Id: RCV004350608
• dbSNP Id: rs552187767
• ExAC: 21:43838546 G / A
• gnomAD v2: 21-43838546-G-A
• gnomAD v3: 21-42418437-G-A
• gnomAD v4: 21-42418437-G-A
• MyVariant Identifiers: chr21:g.43838546G>A (hg19) ; chr21:g.42418437G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42418437G>A , CM000683.2:g.42418437G>A	GRCh38
NC_000021.8:g.43838546G>A , CM000683.1:g.43838546G>A	GRCh37
NC_000021.7:g.42711615G>A	NCBI36
NG_029750.1:g.19576G>A
NG_029750.2:g.19576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319294.11:c.874G>A MANE Select	ENSP00000317327.6:p.Val292Met
ENST00000291535.11:c.760G>A	ENSP00000291535.6:p.Val254Met
ENST00000319294.10:c.874G>A	ENSP00000317327.6:p.Val292Met
ENST00000398367.1:c.760G>A	ENSP00000381408.1:p.Val254Met
ENST00000473381.1:c.760G>A	ENSP00000489235.1:p.Val254Met
ENST00000635325.1:c.760G>A	ENSP00000489463.1:p.Val254Met
NM_001001895.2:c.760G>A	NP_001001895.1:p.Val254Met
NM_001243467.1:c.760G>A	NP_001230396.1:p.Val254Met
NM_018961.3:c.874G>A	NP_061834.1:p.Val292Met
XM_006724013.2:c.817G>A	XP_006724076.1:p.Val273Met
XM_011529605.1:c.874G>A	XP_011527907.1:p.Val292Met
XM_011529606.1:c.469G>A	XP_011527908.1:p.Val157Met
XM_011529607.1:c.469G>A	XP_011527909.1:p.Val157Met
XM_011529608.1:c.874G>A	XP_011527910.1:p.Val292Met
XM_011529609.1:c.874G>A	XP_011527911.1:p.Val292Met
XM_011529610.1:c.58G>A	XP_011527912.1:p.Val20Met
XR_244316.1:n.844G>A
XR_937510.1:n.844G>A
XM_006724013.3:c.817G>A	XP_006724076.1:p.Val273Met
XM_011529605.3:c.874G>A	XP_011527907.1:p.Val292Met
XM_011529606.3:c.469G>A	XP_011527908.1:p.Val157Met
XM_011529607.2:c.469G>A	XP_011527909.1:p.Val157Met
XM_011529609.2:c.874G>A	XP_011527911.1:p.Val292Met
XM_011529610.2:c.58G>A	XP_011527912.1:p.Val20Met
XR_244316.2:n.826G>A
NM_018961.4:c.874G>A MANE Select	NP_061834.1:p.Val292Met
NM_001001895.3:c.760G>A	NP_001001895.1:p.Val254Met
NM_001243467.2:c.760G>A	NP_001230396.1:p.Val254Met