Canonical Allele Identifier: CA413703849

Gene: ATRX

Linked Data

• dbSNP Id: rs2147646900
• MyVariant Identifiers: chrX:g.76763903G>A (hg19) ; chrX:g.77508425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508425G>A , CM000685.2:g.77508425G>A	GRCh38
NC_000023.10:g.76763903G>A , CM000685.1:g.76763903G>A	GRCh37
NC_000023.9:g.76650559G>A	NCBI36
NG_008838.2:g.282797C>T
NG_008838.3:g.282845C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7405C>T MANE Select	ENSP00000362441.4:p.Pro2469Ser
ENST00000675732.1:c.2503C>T	ENSP00000502598.1:p.Pro835Ser
ENST00000373344.9:c.7405C>T	ENSP00000362441.4:p.Pro2469Ser
ENST00000395603.7:c.7291C>T	ENSP00000378967.3:p.Pro2431Ser
ENST00000480283.5:c.*7033C>T	ENSP00000480196.1:n.*7033C>T
ENST00000623706.3:n.5725C>T
NM_000489.4:c.7405C>T	NP_000480.3:p.Pro2469Ser
NM_138270.3:c.7291C>T	NP_612114.2:p.Pro2431Ser
XM_005262153.3:c.7402C>T	XP_005262210.2:p.Pro2468Ser
XM_005262154.3:c.7318C>T	XP_005262211.2:p.Pro2440Ser
XM_005262155.3:c.7288C>T	XP_005262212.2:p.Pro2430Ser
XM_005262156.3:c.7240C>T	XP_005262213.2:p.Pro2414Ser
XM_005262157.3:c.7201C>T	XP_005262214.2:p.Pro2401Ser
XM_006724666.2:c.7288C>T	XP_006724729.1:p.Pro2430Ser
XM_006724667.2:c.7126C>T	XP_006724730.1:p.Pro2376Ser
XR_938400.1:n.8997C>T
NM_000489.5:c.7405C>T	NP_000480.3:p.Pro2469Ser
XM_005262153.5:c.7402C>T	XP_005262210.2:p.Pro2468Ser
XM_005262154.5:c.7318C>T	XP_005262211.2:p.Pro2440Ser
XM_005262155.4:c.7288C>T	XP_005262212.2:p.Pro2430Ser
XM_005262156.4:c.7240C>T	XP_005262213.2:p.Pro2414Ser
XM_005262157.5:c.7201C>T	XP_005262214.2:p.Pro2401Ser
XM_006724666.4:c.7288C>T	XP_006724729.1:p.Pro2430Ser
XM_006724667.3:c.7126C>T	XP_006724730.1:p.Pro2376Ser
XM_017029601.2:c.7315C>T	XP_016885090.1:p.Pro2439Ser
XM_017029602.1:c.7285C>T	XP_016885091.1:p.Pro2429Ser
XM_017029603.1:c.7237C>T	XP_016885092.1:p.Pro2413Ser
XM_017029604.2:c.7204C>T	XP_016885093.1:p.Pro2402Ser
XM_017029605.1:c.7201C>T	XP_016885094.1:p.Pro2401Ser
XM_017029606.2:c.7174C>T	XP_016885095.1:p.Pro2392Ser
XM_017029607.2:c.7171C>T	XP_016885096.1:p.Pro2391Ser
XM_017029608.2:c.7123C>T	XP_016885097.1:p.Pro2375Ser
XM_017029609.1:c.7087C>T	XP_016885098.1:p.Pro2363Ser
XM_017029610.1:c.7084C>T	XP_016885099.1:p.Pro2362Ser
XM_017029611.1:c.7039C>T	XP_016885100.1:p.Pro2347Ser
XR_001755700.2:n.7704C>T
NM_138270.4:c.7291C>T	NP_612114.2:p.Pro2431Ser
NM_000489.6:c.7405C>T MANE Select	NP_000480.3:p.Pro2469Ser
NM_138270.5:c.7291C>T	NP_612114.2:p.Pro2431Ser