Canonical Allele Identifier: CA1022575521

Gene: UBASH3A

Linked Data

• dbSNP Id: rs2053332997
• gnomAD v3: 21-42421252-T-C
• gnomAD v4: 21-42421252-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42421252T>C , CM000683.2:g.42421252T>C	GRCh38
NC_000021.8:g.43841361T>C , CM000683.1:g.43841361T>C	GRCh37
NC_000021.7:g.42714430T>C	NCBI36
NG_029750.1:g.22391T>C
NG_029750.2:g.22391T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000319294.11:c.1046+2643T>C MANE Select	ENSP00000317327.6:n.1046+2643T>C
ENST00000291535.11:c.932+2643T>C	ENSP00000291535.6:n.932+2643T>C
ENST00000319294.10:c.1046+2643T>C	ENSP00000317327.6:n.1046+2643T>C
ENST00000398367.1:c.932+2643T>C	ENSP00000381408.1:n.932+2643T>C
ENST00000473381.1:c.932+2643T>C	ENSP00000489235.1:n.932+2643T>C
ENST00000635325.1:c.932+2643T>C	ENSP00000489463.1:n.932+2643T>C
NM_001001895.2:c.932+2643T>C	NP_001001895.1:n.932+2643T>C
NM_001243467.1:c.932+2643T>C	NP_001230396.1:n.932+2643T>C
NM_018961.3:c.1046+2643T>C	NP_061834.1:n.1046+2643T>C
XM_006724013.2:c.989+2643T>C	XP_006724076.1:n.989+2643T>C
XM_011529605.1:c.1046+2643T>C	XP_011527907.1:n.1046+2643T>C
XM_011529606.1:c.641+2643T>C	XP_011527908.1:n.641+2643T>C
XM_011529607.1:c.641+2643T>C	XP_011527909.1:n.641+2643T>C
XM_011529608.1:c.1046+2643T>C	XP_011527910.1:n.1046+2643T>C
XM_011529609.1:c.1046+2643T>C	XP_011527911.1:n.1046+2643T>C
XM_011529610.1:c.230+2643T>C	XP_011527912.1:n.230+2643T>C
XR_244316.1:n.1016+2643T>C
XR_937510.1:n.1016+2643T>C
XM_006724013.3:c.989+2643T>C	XP_006724076.1:n.989+2643T>C
XM_011529605.3:c.1046+2643T>C	XP_011527907.1:n.1046+2643T>C
XM_011529606.3:c.641+2643T>C	XP_011527908.1:n.641+2643T>C
XM_011529607.2:c.641+2643T>C	XP_011527909.1:n.641+2643T>C
XM_011529609.2:c.1046+2643T>C	XP_011527911.1:n.1046+2643T>C
XM_011529610.2:c.230+2643T>C	XP_011527912.1:n.230+2643T>C
XR_244316.2:n.998+2643T>C
NM_018961.4:c.1046+2643T>C MANE Select	NP_061834.1:n.1046+2643T>C
NM_001001895.3:c.932+2643T>C	NP_001001895.1:n.932+2643T>C
NM_001243467.2:c.932+2643T>C	NP_001230396.1:n.932+2643T>C