Canonical Allele Identifier: CA363655816
Gene: DAXX HGNC NCBI

Linked Data

dbSNP Id: rs2150991412
gnomAD v4: 6-33320209-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.33320209C>T , CM000668.2:g.33320209C>T GRCh38
NC_000006.11:g.33287986C>T , CM000668.1:g.33287986C>T GRCh37
NC_000006.10:g.33395964C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000706094.1:c.1303G>A ENSP00000516212.1:p.Ala435Thr
ENST00000374542.10:c.1267G>A MANE Select ENSP00000363668.5:p.Ala423Thr
ENST00000266000.10:c.1267G>A ENSP00000266000.6:p.Ala423Thr
ENST00000374542.9:c.1267G>A ENSP00000363668.5:p.Ala423Thr
ENST00000414083.6:c.1042G>A ENSP00000396876.2:p.Ala348Thr
ENST00000468536.5:n.297G>A
ENST00000477162.1:n.379G>A
ENST00000490173.1:n.252G>A
ENST00000620164.4:c.1267G>A ENSP00000482399.1:p.Ala423Thr
NM_001141969.1:c.1267G>A NP_001135441.1:p.Ala423Thr
NM_001141970.1:c.1303G>A NP_001135442.1:p.Ala435Thr
NM_001254717.1:c.1042G>A NP_001241646.1:p.Ala348Thr
NM_001350.4:c.1267G>A NP_001341.1:p.Ala423Thr
XM_005248860.3:c.163G>A XP_005248917.1:p.Ala55Thr
NM_001141969.2:c.1267G>A MANE Select NP_001135441.1:p.Ala423Thr
NM_001141970.2:c.1303G>A NP_001135442.1:p.Ala435Thr
NM_001350.5:c.1267G>A NP_001341.1:p.Ala423Thr
NM_001254717.2:c.1042G>A NP_001241646.1:p.Ala348Thr