Canonical Allele Identifier: CA413708418

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907748C>A (hg19) ; chrX:g.77652258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652258C>A , CM000685.2:g.77652258C>A	GRCh38
NC_000023.10:g.76907748C>A , CM000685.1:g.76907748C>A	GRCh37
NC_000023.9:g.76794404C>A	NCBI36
NG_008838.2:g.138964G>T
NG_008838.3:g.139012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4413G>T MANE Select	ENSP00000362441.4:p.Lys1471Asn
ENST00000373344.9:c.4413G>T	ENSP00000362441.4:p.Lys1471Asn
ENST00000395603.7:c.4299G>T	ENSP00000378967.3:p.Lys1433Asn
ENST00000480283.5:c.*4041G>T	ENSP00000480196.1:n.*4041G>T
ENST00000623242.3:c.19G>T
NM_000489.4:c.4413G>T	NP_000480.3:p.Lys1471Asn
NM_138270.3:c.4299G>T	NP_612114.2:p.Lys1433Asn
XM_005262153.3:c.4410G>T	XP_005262210.2:p.Lys1470Asn
XM_005262154.3:c.4326G>T	XP_005262211.2:p.Lys1442Asn
XM_005262155.3:c.4296G>T	XP_005262212.2:p.Lys1432Asn
XM_005262156.3:c.4248G>T	XP_005262213.2:p.Lys1416Asn
XM_005262157.3:c.4209G>T	XP_005262214.2:p.Lys1403Asn
XM_006724666.2:c.4296G>T	XP_006724729.1:p.Lys1432Asn
XM_006724667.2:c.4134G>T	XP_006724730.1:p.Lys1378Asn
XM_006724668.2:c.4413G>T	XP_006724731.1:p.Lys1471Asn
XR_938400.1:n.4681G>T
NM_000489.5:c.4413G>T	NP_000480.3:p.Lys1471Asn
XM_005262153.5:c.4410G>T	XP_005262210.2:p.Lys1470Asn
XM_005262154.5:c.4326G>T	XP_005262211.2:p.Lys1442Asn
XM_005262155.4:c.4296G>T	XP_005262212.2:p.Lys1432Asn
XM_005262156.4:c.4248G>T	XP_005262213.2:p.Lys1416Asn
XM_005262157.5:c.4209G>T	XP_005262214.2:p.Lys1403Asn
XM_006724666.4:c.4296G>T	XP_006724729.1:p.Lys1432Asn
XM_006724667.3:c.4134G>T	XP_006724730.1:p.Lys1378Asn
XM_006724668.3:c.4413G>T	XP_006724731.1:p.Lys1471Asn
XM_017029601.2:c.4323G>T	XP_016885090.1:p.Lys1441Asn
XM_017029602.1:c.4293G>T	XP_016885091.1:p.Lys1431Asn
XM_017029603.1:c.4245G>T	XP_016885092.1:p.Lys1415Asn
XM_017029604.2:c.4212G>T	XP_016885093.1:p.Lys1404Asn
XM_017029605.1:c.4209G>T	XP_016885094.1:p.Lys1403Asn
XM_017029606.2:c.4182G>T	XP_016885095.1:p.Lys1394Asn
XM_017029607.2:c.4179G>T	XP_016885096.1:p.Lys1393Asn
XM_017029608.2:c.4131G>T	XP_016885097.1:p.Lys1377Asn
XM_017029609.1:c.4095G>T	XP_016885098.1:p.Lys1365Asn
XM_017029610.1:c.4092G>T	XP_016885099.1:p.Lys1364Asn
XM_017029611.1:c.4047G>T	XP_016885100.1:p.Lys1349Asn
XR_001755700.2:n.4638G>T
NM_138270.4:c.4299G>T	NP_612114.2:p.Lys1433Asn
NM_000489.6:c.4413G>T MANE Select	NP_000480.3:p.Lys1471Asn
NM_138270.5:c.4299G>T	NP_612114.2:p.Lys1433Asn