Canonical Allele Identifier: CA10043109

Gene: UBASH3A

Linked Data

• ClinVar Variation Id: 2258337
• ClinVar RCV Id: RCV004115145
• dbSNP Id: rs748490791
• ExAC: 21:43833307 G / A
• gnomAD v2: 21-43833307-G-A
• gnomAD v3: 21-42413198-G-A
• gnomAD v4: 21-42413198-G-A
• MyVariant Identifiers: chr21:g.43833307G>A (hg19) ; chr21:g.42413198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42413198G>A , CM000683.2:g.42413198G>A	GRCh38
NC_000021.8:g.43833307G>A , CM000683.1:g.43833307G>A	GRCh37
NC_000021.7:g.42706376G>A	NCBI36
NG_029750.1:g.14337G>A
NG_029750.2:g.14337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319294.11:c.529G>A MANE Select	ENSP00000317327.6:p.Ala177Thr
ENST00000291535.11:c.529G>A	ENSP00000291535.6:p.Ala177Thr
ENST00000319294.10:c.529G>A	ENSP00000317327.6:p.Ala177Thr
ENST00000398367.1:c.529G>A	ENSP00000381408.1:p.Ala177Thr
ENST00000473381.1:c.529G>A	ENSP00000489235.1:p.Ala177Thr
ENST00000634718.1:c.*538G>A	ENSP00000489323.1:n.*538G>A
ENST00000635108.1:c.*329G>A	ENSP00000489263.1:n.*329G>A
ENST00000635325.1:c.529G>A	ENSP00000489463.1:p.Ala177Thr
NM_001001895.2:c.529G>A	NP_001001895.1:p.Ala177Thr
NM_001243467.1:c.529G>A	NP_001230396.1:p.Ala177Thr
NM_018961.3:c.529G>A	NP_061834.1:p.Ala177Thr
XM_006724013.2:c.472G>A	XP_006724076.1:p.Ala158Thr
XM_011529605.1:c.529G>A	XP_011527907.1:p.Ala177Thr
XM_011529606.1:c.155G>A	XP_011527908.1:p.Arg52His
XM_011529607.1:c.155G>A	XP_011527909.1:p.Arg52His
XM_011529608.1:c.529G>A	XP_011527910.1:p.Ala177Thr
XM_011529609.1:c.529G>A	XP_011527911.1:p.Ala177Thr
XR_244316.1:n.613G>A
XR_937510.1:n.613G>A
XM_006724013.3:c.472G>A	XP_006724076.1:p.Ala158Thr
XM_011529605.3:c.529G>A	XP_011527907.1:p.Ala177Thr
XM_011529606.3:c.155G>A	XP_011527908.1:p.Arg52His
XM_011529607.2:c.155G>A	XP_011527909.1:p.Arg52His
XM_011529609.2:c.529G>A	XP_011527911.1:p.Ala177Thr
XR_244316.2:n.595G>A
NM_018961.4:c.529G>A MANE Select	NP_061834.1:p.Ala177Thr
NM_001001895.3:c.529G>A	NP_001001895.1:p.Ala177Thr
NM_001243467.2:c.529G>A	NP_001230396.1:p.Ala177Thr