Canonical Allele Identifier: CA413708434

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907750T>A (hg19) ; chrX:g.77652260T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652260T>A , CM000685.2:g.77652260T>A	GRCh38
NC_000023.10:g.76907750T>A , CM000685.1:g.76907750T>A	GRCh37
NC_000023.9:g.76794406T>A	NCBI36
NG_008838.2:g.138962A>T
NG_008838.3:g.139010A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4411A>T MANE Select	ENSP00000362441.4:p.Lys1471Ter
ENST00000373344.9:c.4411A>T	ENSP00000362441.4:p.Lys1471Ter
ENST00000395603.7:c.4297A>T	ENSP00000378967.3:p.Lys1433Ter
ENST00000480283.5:c.*4039A>T	ENSP00000480196.1:n.*4039A>T
ENST00000623242.3:c.17A>T
NM_000489.4:c.4411A>T	NP_000480.3:p.Lys1471Ter
NM_138270.3:c.4297A>T	NP_612114.2:p.Lys1433Ter
XM_005262153.3:c.4408A>T	XP_005262210.2:p.Lys1470Ter
XM_005262154.3:c.4324A>T	XP_005262211.2:p.Lys1442Ter
XM_005262155.3:c.4294A>T	XP_005262212.2:p.Lys1432Ter
XM_005262156.3:c.4246A>T	XP_005262213.2:p.Lys1416Ter
XM_005262157.3:c.4207A>T	XP_005262214.2:p.Lys1403Ter
XM_006724666.2:c.4294A>T	XP_006724729.1:p.Lys1432Ter
XM_006724667.2:c.4132A>T	XP_006724730.1:p.Lys1378Ter
XM_006724668.2:c.4411A>T	XP_006724731.1:p.Lys1471Ter
XR_938400.1:n.4679A>T
NM_000489.5:c.4411A>T	NP_000480.3:p.Lys1471Ter
XM_005262153.5:c.4408A>T	XP_005262210.2:p.Lys1470Ter
XM_005262154.5:c.4324A>T	XP_005262211.2:p.Lys1442Ter
XM_005262155.4:c.4294A>T	XP_005262212.2:p.Lys1432Ter
XM_005262156.4:c.4246A>T	XP_005262213.2:p.Lys1416Ter
XM_005262157.5:c.4207A>T	XP_005262214.2:p.Lys1403Ter
XM_006724666.4:c.4294A>T	XP_006724729.1:p.Lys1432Ter
XM_006724667.3:c.4132A>T	XP_006724730.1:p.Lys1378Ter
XM_006724668.3:c.4411A>T	XP_006724731.1:p.Lys1471Ter
XM_017029601.2:c.4321A>T	XP_016885090.1:p.Lys1441Ter
XM_017029602.1:c.4291A>T	XP_016885091.1:p.Lys1431Ter
XM_017029603.1:c.4243A>T	XP_016885092.1:p.Lys1415Ter
XM_017029604.2:c.4210A>T	XP_016885093.1:p.Lys1404Ter
XM_017029605.1:c.4207A>T	XP_016885094.1:p.Lys1403Ter
XM_017029606.2:c.4180A>T	XP_016885095.1:p.Lys1394Ter
XM_017029607.2:c.4177A>T	XP_016885096.1:p.Lys1393Ter
XM_017029608.2:c.4129A>T	XP_016885097.1:p.Lys1377Ter
XM_017029609.1:c.4093A>T	XP_016885098.1:p.Lys1365Ter
XM_017029610.1:c.4090A>T	XP_016885099.1:p.Lys1364Ter
XM_017029611.1:c.4045A>T	XP_016885100.1:p.Lys1349Ter
XR_001755700.2:n.4636A>T
NM_138270.4:c.4297A>T	NP_612114.2:p.Lys1433Ter
NM_000489.6:c.4411A>T MANE Select	NP_000480.3:p.Lys1471Ter
NM_138270.5:c.4297A>T	NP_612114.2:p.Lys1433Ter