Canonical Allele Identifier: CA3756576

Gene: DAXX

Linked Data

• dbSNP Id: rs367624304
• ExAC: 6:33287988 A / G
• gnomAD v2: 6-33287988-A-G
• gnomAD v4: 6-33320211-A-G
• MyVariant Identifiers: chr6:g.33287988A>G (hg19) ; chr6:g.33320211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33320211A>G , CM000668.2:g.33320211A>G	GRCh38
NC_000006.11:g.33287988A>G , CM000668.1:g.33287988A>G	GRCh37
NC_000006.10:g.33395966A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000706094.1:c.1301T>C	ENSP00000516212.1:p.Met434Thr
ENST00000374542.10:c.1265T>C MANE Select	ENSP00000363668.5:p.Met422Thr
ENST00000266000.10:c.1265T>C	ENSP00000266000.6:p.Met422Thr
ENST00000374542.9:c.1265T>C	ENSP00000363668.5:p.Met422Thr
ENST00000414083.6:c.1040T>C	ENSP00000396876.2:p.Met347Thr
ENST00000468536.5:n.295T>C
ENST00000477162.1:n.377T>C
ENST00000490173.1:n.250T>C
ENST00000620164.4:c.1265T>C	ENSP00000482399.1:p.Met422Thr
NM_001141969.1:c.1265T>C	NP_001135441.1:p.Met422Thr
NM_001141970.1:c.1301T>C	NP_001135442.1:p.Met434Thr
NM_001254717.1:c.1040T>C	NP_001241646.1:p.Met347Thr
NM_001350.4:c.1265T>C	NP_001341.1:p.Met422Thr
XM_005248860.3:c.161T>C	XP_005248917.1:p.Met54Thr
NM_001141969.2:c.1265T>C MANE Select	NP_001135441.1:p.Met422Thr
NM_001141970.2:c.1301T>C	NP_001135442.1:p.Met434Thr
NM_001350.5:c.1265T>C	NP_001341.1:p.Met422Thr
NM_001254717.2:c.1040T>C	NP_001241646.1:p.Met347Thr