Canonical Allele Identifier: CA274798422
Gene: HDDC3 HGNC NCBI
UNC45A HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90931781C>T , CM000677.2:g.90931781C>T GRCh38
NC_000015.9:g.91475011C>T , CM000677.1:g.91475011C>T GRCh37
NC_000015.8:g.89276015C>T NCBI36
NG_061633.1:g.6602C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000394272.8:c.332G>A (HDDC3) MANE Select ENSP00000377814.4:p.Ser111Asn
ENST00000394275.7:c.-760+1526C>T (UNC45A) ENSP00000377816.2:n.-760+1526C>T
ENST00000643068.1:n.3306G>A (HDDC3)
ENST00000646620.1:c.332G>A (HDDC3) ENSP00000493549.1:p.Ser111Asn
ENST00000672480.1:c.-65+1526C>T (UNC45A) ENSP00000500786.1:n.-65+1526C>T
ENST00000330334.7:c.332G>A (HDDC3) ENSP00000330721.3:p.Ser111Asn
ENST00000394272.7:c.332G>A (HDDC3) ENSP00000377814.3:p.Ser111Asn
ENST00000394275.6:c.-760+1526C>T (UNC45A) ENSP00000377816.2:n.-760+1526C>T
ENST00000461266.5:n.76+1526C>T (UNC45A)
ENST00000480470.5:n.176+729C>T (UNC45A)
ENST00000494993.1:n.662G>A (HDDC3)
ENST00000559834.1:n.744G>A (HDDC3)
ENST00000559898.5:c.332G>A (HDDC3) ENSP00000454103.1:p.Ser111Asn
ENST00000561036.1:c.311G>A (HDDC3) ENSP00000452937.1:p.Ser104Asn
NM_001039675.1:c.-760+1526C>T (UNC45A) NP_001034764.1:n.-760+1526C>T
NM_001286451.1:c.332G>A (HDDC3) NP_001273380.1:p.Ser111Asn
NM_198527.3:c.332G>A (HDDC3) NP_940929.1:p.Ser111Asn
NR_104447.1:n.404G>A (HDDC3)
XM_011521779.1:c.-760+1526C>T (UNC45A) XP_011520081.1:n.-760+1526C>T
NM_198527.4:c.332G>A (HDDC3) NP_940929.1:p.Ser111Asn
XM_024449983.1:c.-1343+1526C>T (UNC45A) XP_024305751.1:n.-1343+1526C>T
XM_024449984.1:c.-1737+1526C>T (UNC45A) XP_024305752.1:n.-1737+1526C>T
XM_024449985.1:c.-1692+1526C>T (UNC45A) XP_024305753.1:n.-1692+1526C>T
NM_001286451.2:c.332G>A (HDDC3) MANE Select NP_001273380.1:p.Ser111Asn
NR_104447.2:n.384G>A (HDDC3)
NM_001039675.2:c.-760+1526C>T (UNC45A) NP_001034764.1:n.-760+1526C>T