Canonical Allele Identifier: CA492171970

Gene: UNC45A

Linked Data

• ClinVar Variation Id: 1966934
• ClinVar RCV Id: RCV002721662
• dbSNP Id: rs1446292486
• MyVariant Identifiers: chr15:g.91479607C>T (hg19) ; chr15:g.90936377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90936377C>T , CM000677.2:g.90936377C>T	GRCh38
NC_000015.9:g.91479607C>T , CM000677.1:g.91479607C>T	GRCh37
NC_000015.8:g.89280611C>T	NCBI36
NG_061633.1:g.11198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394275.7:c.298C>T	ENSP00000377816.2:p.Leu100=
ENST00000639885.1:c.763C>T	ENSP00000491150.1:p.Leu255=
ENST00000672480.1:c.*501C>T	ENSP00000500786.1:n.*501C>T
ENST00000394275.6:c.298C>T	ENSP00000377816.2:p.Leu100=
ENST00000418476.2:c.343C>T MANE Select	ENSP00000407487.2:p.Leu115=
ENST00000486253.1:n.660C>T
ENST00000495068.5:n.486C>T
ENST00000497152.6:n.640C>T
ENST00000553671.6:n.338C>T
ENST00000556482.1:n.412C>T
ENST00000557212.5:n.531C>T
NM_001039675.1:c.298C>T	NP_001034764.1:p.Leu100=
NM_018671.3:c.343C>T	NP_061141.2:p.Leu115=
XM_005254963.3:c.-93C>T	XP_005255020.1:n.-93C>T
XM_011521779.1:c.343C>T	XP_011520081.1:p.Leu115=
NM_001323619.1:c.343C>T	NP_001310548.1:p.Leu115=
NM_001323620.1:c.-93C>T	NP_001310549.1:n.-93C>T
NM_001323621.1:c.298C>T	NP_001310550.1:p.Leu100=
NM_018671.5:c.343C>T MANE Select	NP_061141.2:p.Leu115=
XM_005254963.4:c.-93C>T	XP_005255020.1:n.-93C>T
XM_011521780.3:c.-902C>T	XP_011520082.1:n.-902C>T
XM_017022407.2:c.-902C>T	XP_016877896.1:n.-902C>T
XM_024449983.1:c.-93C>T	XP_024305751.1:n.-93C>T
XM_024449984.1:c.-93C>T	XP_024305752.1:n.-93C>T
XM_024449985.1:c.-93C>T	XP_024305753.1:n.-93C>T
XM_024449986.1:c.-902C>T	XP_024305754.1:n.-902C>T
NM_001039675.2:c.298C>T	NP_001034764.1:p.Leu100=
NM_001323620.2:c.-93C>T	NP_001310549.1:n.-93C>T
NM_001323621.2:c.298C>T	NP_001310550.1:p.Leu100=