Canonical Allele Identifier: CA413708329

Gene: ATRX

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4432A>C MANE Select	ENSP00000362441.4:p.Lys1478Gln
ENST00000373344.9:c.4432A>C	ENSP00000362441.4:p.Lys1478Gln
ENST00000395603.7:c.4318A>C	ENSP00000378967.3:p.Lys1440Gln
ENST00000480283.5:c.*4060A>C	ENSP00000480196.1:n.*4060A>C
ENST00000623242.3:c.38A>C
NM_000489.4:c.4432A>C	NP_000480.3:p.Lys1478Gln
NM_138270.3:c.4318A>C	NP_612114.2:p.Lys1440Gln
XM_005262153.3:c.4429A>C	XP_005262210.2:p.Lys1477Gln
XM_005262154.3:c.4345A>C	XP_005262211.2:p.Lys1449Gln
XM_005262155.3:c.4315A>C	XP_005262212.2:p.Lys1439Gln
XM_005262156.3:c.4267A>C	XP_005262213.2:p.Lys1423Gln
XM_005262157.3:c.4228A>C	XP_005262214.2:p.Lys1410Gln
XM_006724666.2:c.4315A>C	XP_006724729.1:p.Lys1439Gln
XM_006724667.2:c.4153A>C	XP_006724730.1:p.Lys1385Gln
XM_006724668.2:c.4432A>C	XP_006724731.1:p.Lys1478Gln
XR_938400.1:n.4700A>C
NM_000489.5:c.4432A>C	NP_000480.3:p.Lys1478Gln
XM_005262153.5:c.4429A>C	XP_005262210.2:p.Lys1477Gln
XM_005262154.5:c.4345A>C	XP_005262211.2:p.Lys1449Gln
XM_005262155.4:c.4315A>C	XP_005262212.2:p.Lys1439Gln
XM_005262156.4:c.4267A>C	XP_005262213.2:p.Lys1423Gln
XM_005262157.5:c.4228A>C	XP_005262214.2:p.Lys1410Gln
XM_006724666.4:c.4315A>C	XP_006724729.1:p.Lys1439Gln
XM_006724667.3:c.4153A>C	XP_006724730.1:p.Lys1385Gln
XM_006724668.3:c.4432A>C	XP_006724731.1:p.Lys1478Gln
XM_017029601.2:c.4342A>C	XP_016885090.1:p.Lys1448Gln
XM_017029602.1:c.4312A>C	XP_016885091.1:p.Lys1438Gln
XM_017029603.1:c.4264A>C	XP_016885092.1:p.Lys1422Gln
XM_017029604.2:c.4231A>C	XP_016885093.1:p.Lys1411Gln
XM_017029605.1:c.4228A>C	XP_016885094.1:p.Lys1410Gln
XM_017029606.2:c.4201A>C	XP_016885095.1:p.Lys1401Gln
XM_017029607.2:c.4198A>C	XP_016885096.1:p.Lys1400Gln
XM_017029608.2:c.4150A>C	XP_016885097.1:p.Lys1384Gln
XM_017029609.1:c.4114A>C	XP_016885098.1:p.Lys1372Gln
XM_017029610.1:c.4111A>C	XP_016885099.1:p.Lys1371Gln
XM_017029611.1:c.4066A>C	XP_016885100.1:p.Lys1356Gln
XR_001755700.2:n.4657A>C
NM_138270.4:c.4318A>C	NP_612114.2:p.Lys1440Gln
NM_000489.6:c.4432A>C MANE Select	NP_000480.3:p.Lys1478Gln
NM_138270.5:c.4318A>C	NP_612114.2:p.Lys1440Gln