Canonical Allele Identifier: CA10043423

Gene: UBASH3A

Linked Data

• ClinVar Variation Id: 1232058
• ClinVar RCV Id: RCV001612690
• dbSNP Id: rs1893592
• ExAC: 21:43855067 A / C
• gnomAD v2: 21-43855067-A-C
• gnomAD v3: 21-42434957-A-C
• gnomAD v4: 21-42434957-A-C
• MyVariant Identifiers: chr21:g.43855067A>C (hg19) ; chr21:g.42434957A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42434957A>C , CM000683.2:g.42434957A>C	GRCh38
NC_000021.8:g.43855067A>C , CM000683.1:g.43855067A>C	GRCh37
NC_000021.7:g.42728136A>C	NCBI36
NG_029750.1:g.36097A>C
NG_029750.2:g.36096A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319294.11:c.1393+3A>C MANE Select	ENSP00000317327.6:n.1393+3A>C
ENST00000291535.11:c.1279+3A>C	ENSP00000291535.6:n.1279+3A>C
ENST00000319294.10:c.1393+3A>C	ENSP00000317327.6:n.1393+3A>C
ENST00000398367.1:c.1279+3A>C	ENSP00000381408.1:n.1279+3A>C
ENST00000473381.1:c.1282A>C	ENSP00000489235.1:p.Met428Leu
ENST00000635325.1:c.1279+3A>C	ENSP00000489463.1:n.1279+3A>C
NM_001001895.2:c.1279+3A>C	NP_001001895.1:n.1279+3A>C
NM_001243467.1:c.1279+3A>C	NP_001230396.1:n.1279+3A>C
NM_018961.3:c.1393+3A>C	NP_061834.1:n.1393+3A>C
XM_006724013.2:c.1336+3A>C	XP_006724076.1:n.1336+3A>C
XM_011529605.1:c.1393+3A>C	XP_011527907.1:n.1393+3A>C
XM_011529606.1:c.988+3A>C	XP_011527908.1:n.988+3A>C
XM_011529607.1:c.988+3A>C	XP_011527909.1:n.988+3A>C
XM_011529608.1:c.1393+3A>C	XP_011527910.1:n.1393+3A>C
XM_011529609.1:c.1393+3A>C	XP_011527911.1:n.1393+3A>C
XM_011529610.1:c.577+3A>C	XP_011527912.1:n.577+3A>C
XR_244316.1:n.1363+3A>C
XR_937510.1:n.1366A>C
XM_006724013.3:c.1336+3A>C	XP_006724076.1:n.1336+3A>C
XM_011529605.3:c.1393+3A>C	XP_011527907.1:n.1393+3A>C
XM_011529606.3:c.988+3A>C	XP_011527908.1:n.988+3A>C
XM_011529607.2:c.988+3A>C	XP_011527909.1:n.988+3A>C
XM_011529609.2:c.1393+3A>C	XP_011527911.1:n.1393+3A>C
XM_011529610.2:c.577+3A>C	XP_011527912.1:n.577+3A>C
XR_244316.2:n.1345+3A>C
NM_018961.4:c.1393+3A>C MANE Select	NP_061834.1:n.1393+3A>C
NM_001001895.3:c.1279+3A>C	NP_001001895.1:n.1279+3A>C
NM_001243467.2:c.1279+3A>C	NP_001230396.1:n.1279+3A>C