Canonical Allele Identifier: CA413700824

Gene: ATRX

Linked Data

• gnomAD v4: X-77574250-C-T
• MyVariant Identifiers: chrX:g.76829715C>T (hg19) ; chrX:g.77574250C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574250C>T , CM000685.2:g.77574250C>T	GRCh38
NC_000023.10:g.76829715C>T , CM000685.1:g.76829715C>T	GRCh37
NC_000023.9:g.76716371C>T	NCBI36
NG_008838.2:g.216972G>A
NG_008838.3:g.217020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6326G>A MANE Select	ENSP00000362441.4:p.Arg2109Lys
ENST00000675732.1:c.1424G>A	ENSP00000502598.1:p.Arg475Lys
ENST00000373344.9:c.6326G>A	ENSP00000362441.4:p.Arg2109Lys
ENST00000395603.7:c.6212G>A	ENSP00000378967.3:p.Arg2071Lys
ENST00000480283.5:c.*5954G>A	ENSP00000480196.1:n.*5954G>A
ENST00000623706.3:n.3396G>A
NM_000489.4:c.6326G>A	NP_000480.3:p.Arg2109Lys
NM_138270.3:c.6212G>A	NP_612114.2:p.Arg2071Lys
XM_005262153.3:c.6323G>A	XP_005262210.2:p.Arg2108Lys
XM_005262154.3:c.6239G>A	XP_005262211.2:p.Arg2080Lys
XM_005262155.3:c.6209G>A	XP_005262212.2:p.Arg2070Lys
XM_005262156.3:c.6161G>A	XP_005262213.2:p.Arg2054Lys
XM_005262157.3:c.6122G>A	XP_005262214.2:p.Arg2041Lys
XM_006724666.2:c.6209G>A	XP_006724729.1:p.Arg2070Lys
XM_006724667.2:c.6047G>A	XP_006724730.1:p.Arg2016Lys
XR_938400.1:n.6668G>A
NM_000489.5:c.6326G>A	NP_000480.3:p.Arg2109Lys
XM_005262153.5:c.6323G>A	XP_005262210.2:p.Arg2108Lys
XM_005262154.5:c.6239G>A	XP_005262211.2:p.Arg2080Lys
XM_005262155.4:c.6209G>A	XP_005262212.2:p.Arg2070Lys
XM_005262156.4:c.6161G>A	XP_005262213.2:p.Arg2054Lys
XM_005262157.5:c.6122G>A	XP_005262214.2:p.Arg2041Lys
XM_006724666.4:c.6209G>A	XP_006724729.1:p.Arg2070Lys
XM_006724667.3:c.6047G>A	XP_006724730.1:p.Arg2016Lys
XM_017029601.2:c.6236G>A	XP_016885090.1:p.Arg2079Lys
XM_017029602.1:c.6206G>A	XP_016885091.1:p.Arg2069Lys
XM_017029603.1:c.6158G>A	XP_016885092.1:p.Arg2053Lys
XM_017029604.2:c.6125G>A	XP_016885093.1:p.Arg2042Lys
XM_017029605.1:c.6122G>A	XP_016885094.1:p.Arg2041Lys
XM_017029606.2:c.6095G>A	XP_016885095.1:p.Arg2032Lys
XM_017029607.2:c.6092G>A	XP_016885096.1:p.Arg2031Lys
XM_017029608.2:c.6044G>A	XP_016885097.1:p.Arg2015Lys
XM_017029609.1:c.6008G>A	XP_016885098.1:p.Arg2003Lys
XM_017029610.1:c.6005G>A	XP_016885099.1:p.Arg2002Lys
XM_017029611.1:c.5960G>A	XP_016885100.1:p.Arg1987Lys
XR_001755700.2:n.6625G>A
NM_138270.4:c.6212G>A	NP_612114.2:p.Arg2071Lys
NM_000489.6:c.6326G>A MANE Select	NP_000480.3:p.Arg2109Lys
NM_138270.5:c.6212G>A	NP_612114.2:p.Arg2071Lys