Canonical Allele Identifier: CA413703813

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763896G>C (hg19) ; chrX:g.77508418G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7412C>G MANE Select	ENSP00000362441.4:p.Pro2471Arg
ENST00000675732.1:c.2510C>G	ENSP00000502598.1:p.Pro837Arg
ENST00000373344.9:c.7412C>G	ENSP00000362441.4:p.Pro2471Arg
ENST00000395603.7:c.7298C>G	ENSP00000378967.3:p.Pro2433Arg
ENST00000480283.5:c.*7040C>G	ENSP00000480196.1:n.*7040C>G
ENST00000623706.3:n.5732C>G
NM_000489.4:c.7412C>G	NP_000480.3:p.Pro2471Arg
NM_138270.3:c.7298C>G	NP_612114.2:p.Pro2433Arg
XM_005262153.3:c.7409C>G	XP_005262210.2:p.Pro2470Arg
XM_005262154.3:c.7325C>G	XP_005262211.2:p.Pro2442Arg
XM_005262155.3:c.7295C>G	XP_005262212.2:p.Pro2432Arg
XM_005262156.3:c.7247C>G	XP_005262213.2:p.Pro2416Arg
XM_005262157.3:c.7208C>G	XP_005262214.2:p.Pro2403Arg
XM_006724666.2:c.7295C>G	XP_006724729.1:p.Pro2432Arg
XM_006724667.2:c.7133C>G	XP_006724730.1:p.Pro2378Arg
XR_938400.1:n.9004C>G
NM_000489.5:c.7412C>G	NP_000480.3:p.Pro2471Arg
XM_005262153.5:c.7409C>G	XP_005262210.2:p.Pro2470Arg
XM_005262154.5:c.7325C>G	XP_005262211.2:p.Pro2442Arg
XM_005262155.4:c.7295C>G	XP_005262212.2:p.Pro2432Arg
XM_005262156.4:c.7247C>G	XP_005262213.2:p.Pro2416Arg
XM_005262157.5:c.7208C>G	XP_005262214.2:p.Pro2403Arg
XM_006724666.4:c.7295C>G	XP_006724729.1:p.Pro2432Arg
XM_006724667.3:c.7133C>G	XP_006724730.1:p.Pro2378Arg
XM_017029601.2:c.7322C>G	XP_016885090.1:p.Pro2441Arg
XM_017029602.1:c.7292C>G	XP_016885091.1:p.Pro2431Arg
XM_017029603.1:c.7244C>G	XP_016885092.1:p.Pro2415Arg
XM_017029604.2:c.7211C>G	XP_016885093.1:p.Pro2404Arg
XM_017029605.1:c.7208C>G	XP_016885094.1:p.Pro2403Arg
XM_017029606.2:c.7181C>G	XP_016885095.1:p.Pro2394Arg
XM_017029607.2:c.7178C>G	XP_016885096.1:p.Pro2393Arg
XM_017029608.2:c.7130C>G	XP_016885097.1:p.Pro2377Arg
XM_017029609.1:c.7094C>G	XP_016885098.1:p.Pro2365Arg
XM_017029610.1:c.7091C>G	XP_016885099.1:p.Pro2364Arg
XM_017029611.1:c.7046C>G	XP_016885100.1:p.Pro2349Arg
XR_001755700.2:n.7711C>G
NM_138270.4:c.7298C>G	NP_612114.2:p.Pro2433Arg
NM_000489.6:c.7412C>G MANE Select	NP_000480.3:p.Pro2471Arg
NM_138270.5:c.7298C>G	NP_612114.2:p.Pro2433Arg