Canonical Allele Identifier: CA413704441

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649707
• gnomAD v4: X-77508508-G-A
• MyVariant Identifiers: chrX:g.76763986G>A (hg19) ; chrX:g.77508508G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508508G>A , CM000685.2:g.77508508G>A	GRCh38
NC_000023.10:g.76763986G>A , CM000685.1:g.76763986G>A	GRCh37
NC_000023.9:g.76650642G>A	NCBI36
NG_008838.2:g.282714C>T
NG_008838.3:g.282762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7322C>T MANE Select	ENSP00000362441.4:p.Pro2441Leu
ENST00000675732.1:c.2420C>T	ENSP00000502598.1:p.Pro807Leu
ENST00000373344.9:c.7322C>T	ENSP00000362441.4:p.Pro2441Leu
ENST00000395603.7:c.7208C>T	ENSP00000378967.3:p.Pro2403Leu
ENST00000480283.5:c.*6950C>T	ENSP00000480196.1:n.*6950C>T
ENST00000623706.3:n.5642C>T
ENST00000624766.1:n.553C>T
NM_000489.4:c.7322C>T	NP_000480.3:p.Pro2441Leu
NM_138270.3:c.7208C>T	NP_612114.2:p.Pro2403Leu
XM_005262153.3:c.7319C>T	XP_005262210.2:p.Pro2440Leu
XM_005262154.3:c.7235C>T	XP_005262211.2:p.Pro2412Leu
XM_005262155.3:c.7205C>T	XP_005262212.2:p.Pro2402Leu
XM_005262156.3:c.7157C>T	XP_005262213.2:p.Pro2386Leu
XM_005262157.3:c.7118C>T	XP_005262214.2:p.Pro2373Leu
XM_006724666.2:c.7205C>T	XP_006724729.1:p.Pro2402Leu
XM_006724667.2:c.7043C>T	XP_006724730.1:p.Pro2348Leu
XR_938400.1:n.8914C>T
NM_000489.5:c.7322C>T	NP_000480.3:p.Pro2441Leu
XM_005262153.5:c.7319C>T	XP_005262210.2:p.Pro2440Leu
XM_005262154.5:c.7235C>T	XP_005262211.2:p.Pro2412Leu
XM_005262155.4:c.7205C>T	XP_005262212.2:p.Pro2402Leu
XM_005262156.4:c.7157C>T	XP_005262213.2:p.Pro2386Leu
XM_005262157.5:c.7118C>T	XP_005262214.2:p.Pro2373Leu
XM_006724666.4:c.7205C>T	XP_006724729.1:p.Pro2402Leu
XM_006724667.3:c.7043C>T	XP_006724730.1:p.Pro2348Leu
XM_017029601.2:c.7232C>T	XP_016885090.1:p.Pro2411Leu
XM_017029602.1:c.7202C>T	XP_016885091.1:p.Pro2401Leu
XM_017029603.1:c.7154C>T	XP_016885092.1:p.Pro2385Leu
XM_017029604.2:c.7121C>T	XP_016885093.1:p.Pro2374Leu
XM_017029605.1:c.7118C>T	XP_016885094.1:p.Pro2373Leu
XM_017029606.2:c.7091C>T	XP_016885095.1:p.Pro2364Leu
XM_017029607.2:c.7088C>T	XP_016885096.1:p.Pro2363Leu
XM_017029608.2:c.7040C>T	XP_016885097.1:p.Pro2347Leu
XM_017029609.1:c.7004C>T	XP_016885098.1:p.Pro2335Leu
XM_017029610.1:c.7001C>T	XP_016885099.1:p.Pro2334Leu
XM_017029611.1:c.6956C>T	XP_016885100.1:p.Pro2319Leu
XR_001755700.2:n.7621C>T
NM_138270.4:c.7208C>T	NP_612114.2:p.Pro2403Leu
NM_000489.6:c.7322C>T MANE Select	NP_000480.3:p.Pro2441Leu
NM_138270.5:c.7208C>T	NP_612114.2:p.Pro2403Leu