Canonical Allele Identifier: CA413703812

Gene: ATRX

Linked Data

• COSMIC: COSM4993577 ; COSM4993578
• MyVariant Identifiers: chrX:g.76763896G>A (hg19) ; chrX:g.77508418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508418G>A , CM000685.2:g.77508418G>A	GRCh38
NC_000023.10:g.76763896G>A , CM000685.1:g.76763896G>A	GRCh37
NC_000023.9:g.76650552G>A	NCBI36
NG_008838.2:g.282804C>T
NG_008838.3:g.282852C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7412C>T MANE Select	ENSP00000362441.4:p.Pro2471Leu
ENST00000675732.1:c.2510C>T	ENSP00000502598.1:p.Pro837Leu
ENST00000373344.9:c.7412C>T	ENSP00000362441.4:p.Pro2471Leu
ENST00000395603.7:c.7298C>T	ENSP00000378967.3:p.Pro2433Leu
ENST00000480283.5:c.*7040C>T	ENSP00000480196.1:n.*7040C>T
ENST00000623706.3:n.5732C>T
NM_000489.4:c.7412C>T	NP_000480.3:p.Pro2471Leu
NM_138270.3:c.7298C>T	NP_612114.2:p.Pro2433Leu
XM_005262153.3:c.7409C>T	XP_005262210.2:p.Pro2470Leu
XM_005262154.3:c.7325C>T	XP_005262211.2:p.Pro2442Leu
XM_005262155.3:c.7295C>T	XP_005262212.2:p.Pro2432Leu
XM_005262156.3:c.7247C>T	XP_005262213.2:p.Pro2416Leu
XM_005262157.3:c.7208C>T	XP_005262214.2:p.Pro2403Leu
XM_006724666.2:c.7295C>T	XP_006724729.1:p.Pro2432Leu
XM_006724667.2:c.7133C>T	XP_006724730.1:p.Pro2378Leu
XR_938400.1:n.9004C>T
NM_000489.5:c.7412C>T	NP_000480.3:p.Pro2471Leu
XM_005262153.5:c.7409C>T	XP_005262210.2:p.Pro2470Leu
XM_005262154.5:c.7325C>T	XP_005262211.2:p.Pro2442Leu
XM_005262155.4:c.7295C>T	XP_005262212.2:p.Pro2432Leu
XM_005262156.4:c.7247C>T	XP_005262213.2:p.Pro2416Leu
XM_005262157.5:c.7208C>T	XP_005262214.2:p.Pro2403Leu
XM_006724666.4:c.7295C>T	XP_006724729.1:p.Pro2432Leu
XM_006724667.3:c.7133C>T	XP_006724730.1:p.Pro2378Leu
XM_017029601.2:c.7322C>T	XP_016885090.1:p.Pro2441Leu
XM_017029602.1:c.7292C>T	XP_016885091.1:p.Pro2431Leu
XM_017029603.1:c.7244C>T	XP_016885092.1:p.Pro2415Leu
XM_017029604.2:c.7211C>T	XP_016885093.1:p.Pro2404Leu
XM_017029605.1:c.7208C>T	XP_016885094.1:p.Pro2403Leu
XM_017029606.2:c.7181C>T	XP_016885095.1:p.Pro2394Leu
XM_017029607.2:c.7178C>T	XP_016885096.1:p.Pro2393Leu
XM_017029608.2:c.7130C>T	XP_016885097.1:p.Pro2377Leu
XM_017029609.1:c.7094C>T	XP_016885098.1:p.Pro2365Leu
XM_017029610.1:c.7091C>T	XP_016885099.1:p.Pro2364Leu
XM_017029611.1:c.7046C>T	XP_016885100.1:p.Pro2349Leu
XR_001755700.2:n.7711C>T
NM_138270.4:c.7298C>T	NP_612114.2:p.Pro2433Leu
NM_000489.6:c.7412C>T MANE Select	NP_000480.3:p.Pro2471Leu
NM_138270.5:c.7298C>T	NP_612114.2:p.Pro2433Leu