Canonical Allele Identifier: CA413703838

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763900G>C (hg19) ; chrX:g.77508422G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508422G>C , CM000685.2:g.77508422G>C	GRCh38
NC_000023.10:g.76763900G>C , CM000685.1:g.76763900G>C	GRCh37
NC_000023.9:g.76650556G>C	NCBI36
NG_008838.2:g.282800C>G
NG_008838.3:g.282848C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7408C>G MANE Select	ENSP00000362441.4:p.Pro2470Ala
ENST00000675732.1:c.2506C>G	ENSP00000502598.1:p.Pro836Ala
ENST00000373344.9:c.7408C>G	ENSP00000362441.4:p.Pro2470Ala
ENST00000395603.7:c.7294C>G	ENSP00000378967.3:p.Pro2432Ala
ENST00000480283.5:c.*7036C>G	ENSP00000480196.1:n.*7036C>G
ENST00000623706.3:n.5728C>G
NM_000489.4:c.7408C>G	NP_000480.3:p.Pro2470Ala
NM_138270.3:c.7294C>G	NP_612114.2:p.Pro2432Ala
XM_005262153.3:c.7405C>G	XP_005262210.2:p.Pro2469Ala
XM_005262154.3:c.7321C>G	XP_005262211.2:p.Pro2441Ala
XM_005262155.3:c.7291C>G	XP_005262212.2:p.Pro2431Ala
XM_005262156.3:c.7243C>G	XP_005262213.2:p.Pro2415Ala
XM_005262157.3:c.7204C>G	XP_005262214.2:p.Pro2402Ala
XM_006724666.2:c.7291C>G	XP_006724729.1:p.Pro2431Ala
XM_006724667.2:c.7129C>G	XP_006724730.1:p.Pro2377Ala
XR_938400.1:n.9000C>G
NM_000489.5:c.7408C>G	NP_000480.3:p.Pro2470Ala
XM_005262153.5:c.7405C>G	XP_005262210.2:p.Pro2469Ala
XM_005262154.5:c.7321C>G	XP_005262211.2:p.Pro2441Ala
XM_005262155.4:c.7291C>G	XP_005262212.2:p.Pro2431Ala
XM_005262156.4:c.7243C>G	XP_005262213.2:p.Pro2415Ala
XM_005262157.5:c.7204C>G	XP_005262214.2:p.Pro2402Ala
XM_006724666.4:c.7291C>G	XP_006724729.1:p.Pro2431Ala
XM_006724667.3:c.7129C>G	XP_006724730.1:p.Pro2377Ala
XM_017029601.2:c.7318C>G	XP_016885090.1:p.Pro2440Ala
XM_017029602.1:c.7288C>G	XP_016885091.1:p.Pro2430Ala
XM_017029603.1:c.7240C>G	XP_016885092.1:p.Pro2414Ala
XM_017029604.2:c.7207C>G	XP_016885093.1:p.Pro2403Ala
XM_017029605.1:c.7204C>G	XP_016885094.1:p.Pro2402Ala
XM_017029606.2:c.7177C>G	XP_016885095.1:p.Pro2393Ala
XM_017029607.2:c.7174C>G	XP_016885096.1:p.Pro2392Ala
XM_017029608.2:c.7126C>G	XP_016885097.1:p.Pro2376Ala
XM_017029609.1:c.7090C>G	XP_016885098.1:p.Pro2364Ala
XM_017029610.1:c.7087C>G	XP_016885099.1:p.Pro2363Ala
XM_017029611.1:c.7042C>G	XP_016885100.1:p.Pro2348Ala
XR_001755700.2:n.7707C>G
NM_138270.4:c.7294C>G	NP_612114.2:p.Pro2432Ala
NM_000489.6:c.7408C>G MANE Select	NP_000480.3:p.Pro2470Ala
NM_138270.5:c.7294C>G	NP_612114.2:p.Pro2432Ala