Canonical Allele Identifier: CA363655800

Gene: DAXX

Linked Data

• gnomAD v4: 6-33320206-A-G
• MyVariant Identifiers: chr6:g.33287983A>G (hg19) ; chr6:g.33320206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33320206A>G , CM000668.2:g.33320206A>G	GRCh38
NC_000006.11:g.33287983A>G , CM000668.1:g.33287983A>G	GRCh37
NC_000006.10:g.33395961A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000706094.1:c.1306T>C	ENSP00000516212.1:p.Ser436Pro
ENST00000374542.10:c.1270T>C MANE Select	ENSP00000363668.5:p.Ser424Pro
ENST00000266000.10:c.1270T>C	ENSP00000266000.6:p.Ser424Pro
ENST00000374542.9:c.1270T>C	ENSP00000363668.5:p.Ser424Pro
ENST00000414083.6:c.1045T>C	ENSP00000396876.2:p.Ser349Pro
ENST00000468536.5:n.300T>C
ENST00000477162.1:n.382T>C
ENST00000490173.1:n.255T>C
ENST00000620164.4:c.1270T>C	ENSP00000482399.1:p.Ser424Pro
NM_001141969.1:c.1270T>C	NP_001135441.1:p.Ser424Pro
NM_001141970.1:c.1306T>C	NP_001135442.1:p.Ser436Pro
NM_001254717.1:c.1045T>C	NP_001241646.1:p.Ser349Pro
NM_001350.4:c.1270T>C	NP_001341.1:p.Ser424Pro
XM_005248860.3:c.166T>C	XP_005248917.1:p.Ser56Pro
NM_001141969.2:c.1270T>C MANE Select	NP_001135441.1:p.Ser424Pro
NM_001141970.2:c.1306T>C	NP_001135442.1:p.Ser436Pro
NM_001350.5:c.1270T>C	NP_001341.1:p.Ser424Pro
NM_001254717.2:c.1045T>C	NP_001241646.1:p.Ser349Pro