Canonical Allele Identifier: CA413708326

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907728T>G (hg19) ; chrX:g.77652238T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652238T>G , CM000685.2:g.77652238T>G	GRCh38
NC_000023.10:g.76907728T>G , CM000685.1:g.76907728T>G	GRCh37
NC_000023.9:g.76794384T>G	NCBI36
NG_008838.2:g.138984A>C
NG_008838.3:g.139032A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4433A>C MANE Select	ENSP00000362441.4:p.Lys1478Thr
ENST00000373344.9:c.4433A>C	ENSP00000362441.4:p.Lys1478Thr
ENST00000395603.7:c.4319A>C	ENSP00000378967.3:p.Lys1440Thr
ENST00000480283.5:c.*4061A>C	ENSP00000480196.1:n.*4061A>C
ENST00000623242.3:c.39A>C
NM_000489.4:c.4433A>C	NP_000480.3:p.Lys1478Thr
NM_138270.3:c.4319A>C	NP_612114.2:p.Lys1440Thr
XM_005262153.3:c.4430A>C	XP_005262210.2:p.Lys1477Thr
XM_005262154.3:c.4346A>C	XP_005262211.2:p.Lys1449Thr
XM_005262155.3:c.4316A>C	XP_005262212.2:p.Lys1439Thr
XM_005262156.3:c.4268A>C	XP_005262213.2:p.Lys1423Thr
XM_005262157.3:c.4229A>C	XP_005262214.2:p.Lys1410Thr
XM_006724666.2:c.4316A>C	XP_006724729.1:p.Lys1439Thr
XM_006724667.2:c.4154A>C	XP_006724730.1:p.Lys1385Thr
XM_006724668.2:c.4433A>C	XP_006724731.1:p.Lys1478Thr
XR_938400.1:n.4701A>C
NM_000489.5:c.4433A>C	NP_000480.3:p.Lys1478Thr
XM_005262153.5:c.4430A>C	XP_005262210.2:p.Lys1477Thr
XM_005262154.5:c.4346A>C	XP_005262211.2:p.Lys1449Thr
XM_005262155.4:c.4316A>C	XP_005262212.2:p.Lys1439Thr
XM_005262156.4:c.4268A>C	XP_005262213.2:p.Lys1423Thr
XM_005262157.5:c.4229A>C	XP_005262214.2:p.Lys1410Thr
XM_006724666.4:c.4316A>C	XP_006724729.1:p.Lys1439Thr
XM_006724667.3:c.4154A>C	XP_006724730.1:p.Lys1385Thr
XM_006724668.3:c.4433A>C	XP_006724731.1:p.Lys1478Thr
XM_017029601.2:c.4343A>C	XP_016885090.1:p.Lys1448Thr
XM_017029602.1:c.4313A>C	XP_016885091.1:p.Lys1438Thr
XM_017029603.1:c.4265A>C	XP_016885092.1:p.Lys1422Thr
XM_017029604.2:c.4232A>C	XP_016885093.1:p.Lys1411Thr
XM_017029605.1:c.4229A>C	XP_016885094.1:p.Lys1410Thr
XM_017029606.2:c.4202A>C	XP_016885095.1:p.Lys1401Thr
XM_017029607.2:c.4199A>C	XP_016885096.1:p.Lys1400Thr
XM_017029608.2:c.4151A>C	XP_016885097.1:p.Lys1384Thr
XM_017029609.1:c.4115A>C	XP_016885098.1:p.Lys1372Thr
XM_017029610.1:c.4112A>C	XP_016885099.1:p.Lys1371Thr
XM_017029611.1:c.4067A>C	XP_016885100.1:p.Lys1356Thr
XR_001755700.2:n.4658A>C
NM_138270.4:c.4319A>C	NP_612114.2:p.Lys1440Thr
NM_000489.6:c.4433A>C MANE Select	NP_000480.3:p.Lys1478Thr
NM_138270.5:c.4319A>C	NP_612114.2:p.Lys1440Thr