Canonical Allele Identifier: CA413707107

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776309C>G (hg19) ; chrX:g.77520831C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520831C>G , CM000685.2:g.77520831C>G	GRCh38
NC_000023.10:g.76776309C>G , CM000685.1:g.76776309C>G	GRCh37
NC_000023.9:g.76662965C>G	NCBI36
NG_008838.2:g.270391G>C
NG_008838.3:g.270439G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7157G>C MANE Select	ENSP00000362441.4:p.Arg2386Pro
ENST00000675732.1:c.2255G>C	ENSP00000502598.1:p.Arg752Pro
ENST00000373344.9:c.7157G>C	ENSP00000362441.4:p.Arg2386Pro
ENST00000395603.7:c.7043G>C	ENSP00000378967.3:p.Arg2348Pro
ENST00000480283.5:c.*6785G>C	ENSP00000480196.1:n.*6785G>C
ENST00000623706.3:n.5477G>C
ENST00000624766.1:n.388G>C
NM_000489.4:c.7157G>C	NP_000480.3:p.Arg2386Pro
NM_138270.3:c.7043G>C	NP_612114.2:p.Arg2348Pro
XM_005262153.3:c.7154G>C	XP_005262210.2:p.Arg2385Pro
XM_005262154.3:c.7070G>C	XP_005262211.2:p.Arg2357Pro
XM_005262155.3:c.7040G>C	XP_005262212.2:p.Arg2347Pro
XM_005262156.3:c.6992G>C	XP_005262213.2:p.Arg2331Pro
XM_005262157.3:c.6953G>C	XP_005262214.2:p.Arg2318Pro
XM_006724666.2:c.7040G>C	XP_006724729.1:p.Arg2347Pro
XM_006724667.2:c.6878G>C	XP_006724730.1:p.Arg2293Pro
XR_938400.1:n.8749G>C
NM_000489.5:c.7157G>C	NP_000480.3:p.Arg2386Pro
XM_005262153.5:c.7154G>C	XP_005262210.2:p.Arg2385Pro
XM_005262154.5:c.7070G>C	XP_005262211.2:p.Arg2357Pro
XM_005262155.4:c.7040G>C	XP_005262212.2:p.Arg2347Pro
XM_005262156.4:c.6992G>C	XP_005262213.2:p.Arg2331Pro
XM_005262157.5:c.6953G>C	XP_005262214.2:p.Arg2318Pro
XM_006724666.4:c.7040G>C	XP_006724729.1:p.Arg2347Pro
XM_006724667.3:c.6878G>C	XP_006724730.1:p.Arg2293Pro
XM_017029601.2:c.7067G>C	XP_016885090.1:p.Arg2356Pro
XM_017029602.1:c.7037G>C	XP_016885091.1:p.Arg2346Pro
XM_017029603.1:c.6989G>C	XP_016885092.1:p.Arg2330Pro
XM_017029604.2:c.6956G>C	XP_016885093.1:p.Arg2319Pro
XM_017029605.1:c.6953G>C	XP_016885094.1:p.Arg2318Pro
XM_017029606.2:c.6926G>C	XP_016885095.1:p.Arg2309Pro
XM_017029607.2:c.6923G>C	XP_016885096.1:p.Arg2308Pro
XM_017029608.2:c.6875G>C	XP_016885097.1:p.Arg2292Pro
XM_017029609.1:c.6839G>C	XP_016885098.1:p.Arg2280Pro
XM_017029610.1:c.6836G>C	XP_016885099.1:p.Arg2279Pro
XM_017029611.1:c.6791G>C	XP_016885100.1:p.Arg2264Pro
XR_001755700.2:n.7456G>C
NM_138270.4:c.7043G>C	NP_612114.2:p.Arg2348Pro
NM_000489.6:c.7157G>C MANE Select	NP_000480.3:p.Arg2386Pro
NM_138270.5:c.7043G>C	NP_612114.2:p.Arg2348Pro