Canonical Allele Identifier: CA413704528

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650097
• MyVariant Identifiers: chrX:g.76763994C>T (hg19) ; chrX:g.77508516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508516C>T , CM000685.2:g.77508516C>T	GRCh38
NC_000023.10:g.76763994C>T , CM000685.1:g.76763994C>T	GRCh37
NC_000023.9:g.76650650C>T	NCBI36
NG_008838.2:g.282706G>A
NG_008838.3:g.282754G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7314G>A MANE Select	ENSP00000362441.4:p.Met2438Ile
ENST00000675732.1:c.2412G>A	ENSP00000502598.1:p.Met804Ile
ENST00000373344.9:c.7314G>A	ENSP00000362441.4:p.Met2438Ile
ENST00000395603.7:c.7200G>A	ENSP00000378967.3:p.Met2400Ile
ENST00000480283.5:c.*6942G>A	ENSP00000480196.1:n.*6942G>A
ENST00000623706.3:n.5634G>A
ENST00000624766.1:n.545G>A
NM_000489.4:c.7314G>A	NP_000480.3:p.Met2438Ile
NM_138270.3:c.7200G>A	NP_612114.2:p.Met2400Ile
XM_005262153.3:c.7311G>A	XP_005262210.2:p.Met2437Ile
XM_005262154.3:c.7227G>A	XP_005262211.2:p.Met2409Ile
XM_005262155.3:c.7197G>A	XP_005262212.2:p.Met2399Ile
XM_005262156.3:c.7149G>A	XP_005262213.2:p.Met2383Ile
XM_005262157.3:c.7110G>A	XP_005262214.2:p.Met2370Ile
XM_006724666.2:c.7197G>A	XP_006724729.1:p.Met2399Ile
XM_006724667.2:c.7035G>A	XP_006724730.1:p.Met2345Ile
XR_938400.1:n.8906G>A
NM_000489.5:c.7314G>A	NP_000480.3:p.Met2438Ile
XM_005262153.5:c.7311G>A	XP_005262210.2:p.Met2437Ile
XM_005262154.5:c.7227G>A	XP_005262211.2:p.Met2409Ile
XM_005262155.4:c.7197G>A	XP_005262212.2:p.Met2399Ile
XM_005262156.4:c.7149G>A	XP_005262213.2:p.Met2383Ile
XM_005262157.5:c.7110G>A	XP_005262214.2:p.Met2370Ile
XM_006724666.4:c.7197G>A	XP_006724729.1:p.Met2399Ile
XM_006724667.3:c.7035G>A	XP_006724730.1:p.Met2345Ile
XM_017029601.2:c.7224G>A	XP_016885090.1:p.Met2408Ile
XM_017029602.1:c.7194G>A	XP_016885091.1:p.Met2398Ile
XM_017029603.1:c.7146G>A	XP_016885092.1:p.Met2382Ile
XM_017029604.2:c.7113G>A	XP_016885093.1:p.Met2371Ile
XM_017029605.1:c.7110G>A	XP_016885094.1:p.Met2370Ile
XM_017029606.2:c.7083G>A	XP_016885095.1:p.Met2361Ile
XM_017029607.2:c.7080G>A	XP_016885096.1:p.Met2360Ile
XM_017029608.2:c.7032G>A	XP_016885097.1:p.Met2344Ile
XM_017029609.1:c.6996G>A	XP_016885098.1:p.Met2332Ile
XM_017029610.1:c.6993G>A	XP_016885099.1:p.Met2331Ile
XM_017029611.1:c.6948G>A	XP_016885100.1:p.Met2316Ile
XR_001755700.2:n.7613G>A
NM_138270.4:c.7200G>A	NP_612114.2:p.Met2400Ile
NM_000489.6:c.7314G>A MANE Select	NP_000480.3:p.Met2438Ile
NM_138270.5:c.7200G>A	NP_612114.2:p.Met2400Ile