Canonical Allele Identifier: CA413704432

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649599
• MyVariant Identifiers: chrX:g.76763984G>A (hg19) ; chrX:g.77508506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508506G>A , CM000685.2:g.77508506G>A	GRCh38
NC_000023.10:g.76763984G>A , CM000685.1:g.76763984G>A	GRCh37
NC_000023.9:g.76650640G>A	NCBI36
NG_008838.2:g.282716C>T
NG_008838.3:g.282764C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7324C>T MANE Select	ENSP00000362441.4:p.Pro2442Ser
ENST00000675732.1:c.2422C>T	ENSP00000502598.1:p.Pro808Ser
ENST00000373344.9:c.7324C>T	ENSP00000362441.4:p.Pro2442Ser
ENST00000395603.7:c.7210C>T	ENSP00000378967.3:p.Pro2404Ser
ENST00000480283.5:c.*6952C>T	ENSP00000480196.1:n.*6952C>T
ENST00000623706.3:n.5644C>T
ENST00000624766.1:n.555C>T
NM_000489.4:c.7324C>T	NP_000480.3:p.Pro2442Ser
NM_138270.3:c.7210C>T	NP_612114.2:p.Pro2404Ser
XM_005262153.3:c.7321C>T	XP_005262210.2:p.Pro2441Ser
XM_005262154.3:c.7237C>T	XP_005262211.2:p.Pro2413Ser
XM_005262155.3:c.7207C>T	XP_005262212.2:p.Pro2403Ser
XM_005262156.3:c.7159C>T	XP_005262213.2:p.Pro2387Ser
XM_005262157.3:c.7120C>T	XP_005262214.2:p.Pro2374Ser
XM_006724666.2:c.7207C>T	XP_006724729.1:p.Pro2403Ser
XM_006724667.2:c.7045C>T	XP_006724730.1:p.Pro2349Ser
XR_938400.1:n.8916C>T
NM_000489.5:c.7324C>T	NP_000480.3:p.Pro2442Ser
XM_005262153.5:c.7321C>T	XP_005262210.2:p.Pro2441Ser
XM_005262154.5:c.7237C>T	XP_005262211.2:p.Pro2413Ser
XM_005262155.4:c.7207C>T	XP_005262212.2:p.Pro2403Ser
XM_005262156.4:c.7159C>T	XP_005262213.2:p.Pro2387Ser
XM_005262157.5:c.7120C>T	XP_005262214.2:p.Pro2374Ser
XM_006724666.4:c.7207C>T	XP_006724729.1:p.Pro2403Ser
XM_006724667.3:c.7045C>T	XP_006724730.1:p.Pro2349Ser
XM_017029601.2:c.7234C>T	XP_016885090.1:p.Pro2412Ser
XM_017029602.1:c.7204C>T	XP_016885091.1:p.Pro2402Ser
XM_017029603.1:c.7156C>T	XP_016885092.1:p.Pro2386Ser
XM_017029604.2:c.7123C>T	XP_016885093.1:p.Pro2375Ser
XM_017029605.1:c.7120C>T	XP_016885094.1:p.Pro2374Ser
XM_017029606.2:c.7093C>T	XP_016885095.1:p.Pro2365Ser
XM_017029607.2:c.7090C>T	XP_016885096.1:p.Pro2364Ser
XM_017029608.2:c.7042C>T	XP_016885097.1:p.Pro2348Ser
XM_017029609.1:c.7006C>T	XP_016885098.1:p.Pro2336Ser
XM_017029610.1:c.7003C>T	XP_016885099.1:p.Pro2335Ser
XM_017029611.1:c.6958C>T	XP_016885100.1:p.Pro2320Ser
XR_001755700.2:n.7623C>T
NM_138270.4:c.7210C>T	NP_612114.2:p.Pro2404Ser
NM_000489.6:c.7324C>T MANE Select	NP_000480.3:p.Pro2442Ser
NM_138270.5:c.7210C>T	NP_612114.2:p.Pro2404Ser