Canonical Allele Identifier: CA413708327

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907729T>A (hg19) ; chrX:g.77652239T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652239T>A , CM000685.2:g.77652239T>A	GRCh38
NC_000023.10:g.76907729T>A , CM000685.1:g.76907729T>A	GRCh37
NC_000023.9:g.76794385T>A	NCBI36
NG_008838.2:g.138983A>T
NG_008838.3:g.139031A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4432A>T MANE Select	ENSP00000362441.4:p.Lys1478Ter
ENST00000373344.9:c.4432A>T	ENSP00000362441.4:p.Lys1478Ter
ENST00000395603.7:c.4318A>T	ENSP00000378967.3:p.Lys1440Ter
ENST00000480283.5:c.*4060A>T	ENSP00000480196.1:n.*4060A>T
ENST00000623242.3:c.38A>T
NM_000489.4:c.4432A>T	NP_000480.3:p.Lys1478Ter
NM_138270.3:c.4318A>T	NP_612114.2:p.Lys1440Ter
XM_005262153.3:c.4429A>T	XP_005262210.2:p.Lys1477Ter
XM_005262154.3:c.4345A>T	XP_005262211.2:p.Lys1449Ter
XM_005262155.3:c.4315A>T	XP_005262212.2:p.Lys1439Ter
XM_005262156.3:c.4267A>T	XP_005262213.2:p.Lys1423Ter
XM_005262157.3:c.4228A>T	XP_005262214.2:p.Lys1410Ter
XM_006724666.2:c.4315A>T	XP_006724729.1:p.Lys1439Ter
XM_006724667.2:c.4153A>T	XP_006724730.1:p.Lys1385Ter
XM_006724668.2:c.4432A>T	XP_006724731.1:p.Lys1478Ter
XR_938400.1:n.4700A>T
NM_000489.5:c.4432A>T	NP_000480.3:p.Lys1478Ter
XM_005262153.5:c.4429A>T	XP_005262210.2:p.Lys1477Ter
XM_005262154.5:c.4345A>T	XP_005262211.2:p.Lys1449Ter
XM_005262155.4:c.4315A>T	XP_005262212.2:p.Lys1439Ter
XM_005262156.4:c.4267A>T	XP_005262213.2:p.Lys1423Ter
XM_005262157.5:c.4228A>T	XP_005262214.2:p.Lys1410Ter
XM_006724666.4:c.4315A>T	XP_006724729.1:p.Lys1439Ter
XM_006724667.3:c.4153A>T	XP_006724730.1:p.Lys1385Ter
XM_006724668.3:c.4432A>T	XP_006724731.1:p.Lys1478Ter
XM_017029601.2:c.4342A>T	XP_016885090.1:p.Lys1448Ter
XM_017029602.1:c.4312A>T	XP_016885091.1:p.Lys1438Ter
XM_017029603.1:c.4264A>T	XP_016885092.1:p.Lys1422Ter
XM_017029604.2:c.4231A>T	XP_016885093.1:p.Lys1411Ter
XM_017029605.1:c.4228A>T	XP_016885094.1:p.Lys1410Ter
XM_017029606.2:c.4201A>T	XP_016885095.1:p.Lys1401Ter
XM_017029607.2:c.4198A>T	XP_016885096.1:p.Lys1400Ter
XM_017029608.2:c.4150A>T	XP_016885097.1:p.Lys1384Ter
XM_017029609.1:c.4114A>T	XP_016885098.1:p.Lys1372Ter
XM_017029610.1:c.4111A>T	XP_016885099.1:p.Lys1371Ter
XM_017029611.1:c.4066A>T	XP_016885100.1:p.Lys1356Ter
XR_001755700.2:n.4657A>T
NM_138270.4:c.4318A>T	NP_612114.2:p.Lys1440Ter
NM_000489.6:c.4432A>T MANE Select	NP_000480.3:p.Lys1478Ter
NM_138270.5:c.4318A>T	NP_612114.2:p.Lys1440Ter