Canonical Allele Identifier: CA413707064

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776297A>G (hg19) ; chrX:g.77520819A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520819A>G , CM000685.2:g.77520819A>G	GRCh38
NC_000023.10:g.76776297A>G , CM000685.1:g.76776297A>G	GRCh37
NC_000023.9:g.76662953A>G	NCBI36
NG_008838.2:g.270403T>C
NG_008838.3:g.270451T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7169T>C MANE Select	ENSP00000362441.4:p.Ile2390Thr
ENST00000675732.1:c.2267T>C	ENSP00000502598.1:p.Ile756Thr
ENST00000373344.9:c.7169T>C	ENSP00000362441.4:p.Ile2390Thr
ENST00000395603.7:c.7055T>C	ENSP00000378967.3:p.Ile2352Thr
ENST00000480283.5:c.*6797T>C	ENSP00000480196.1:n.*6797T>C
ENST00000623706.3:n.5489T>C
ENST00000624766.1:n.400T>C
NM_000489.4:c.7169T>C	NP_000480.3:p.Ile2390Thr
NM_138270.3:c.7055T>C	NP_612114.2:p.Ile2352Thr
XM_005262153.3:c.7166T>C	XP_005262210.2:p.Ile2389Thr
XM_005262154.3:c.7082T>C	XP_005262211.2:p.Ile2361Thr
XM_005262155.3:c.7052T>C	XP_005262212.2:p.Ile2351Thr
XM_005262156.3:c.7004T>C	XP_005262213.2:p.Ile2335Thr
XM_005262157.3:c.6965T>C	XP_005262214.2:p.Ile2322Thr
XM_006724666.2:c.7052T>C	XP_006724729.1:p.Ile2351Thr
XM_006724667.2:c.6890T>C	XP_006724730.1:p.Ile2297Thr
XR_938400.1:n.8761T>C
NM_000489.5:c.7169T>C	NP_000480.3:p.Ile2390Thr
XM_005262153.5:c.7166T>C	XP_005262210.2:p.Ile2389Thr
XM_005262154.5:c.7082T>C	XP_005262211.2:p.Ile2361Thr
XM_005262155.4:c.7052T>C	XP_005262212.2:p.Ile2351Thr
XM_005262156.4:c.7004T>C	XP_005262213.2:p.Ile2335Thr
XM_005262157.5:c.6965T>C	XP_005262214.2:p.Ile2322Thr
XM_006724666.4:c.7052T>C	XP_006724729.1:p.Ile2351Thr
XM_006724667.3:c.6890T>C	XP_006724730.1:p.Ile2297Thr
XM_017029601.2:c.7079T>C	XP_016885090.1:p.Ile2360Thr
XM_017029602.1:c.7049T>C	XP_016885091.1:p.Ile2350Thr
XM_017029603.1:c.7001T>C	XP_016885092.1:p.Ile2334Thr
XM_017029604.2:c.6968T>C	XP_016885093.1:p.Ile2323Thr
XM_017029605.1:c.6965T>C	XP_016885094.1:p.Ile2322Thr
XM_017029606.2:c.6938T>C	XP_016885095.1:p.Ile2313Thr
XM_017029607.2:c.6935T>C	XP_016885096.1:p.Ile2312Thr
XM_017029608.2:c.6887T>C	XP_016885097.1:p.Ile2296Thr
XM_017029609.1:c.6851T>C	XP_016885098.1:p.Ile2284Thr
XM_017029610.1:c.6848T>C	XP_016885099.1:p.Ile2283Thr
XM_017029611.1:c.6803T>C	XP_016885100.1:p.Ile2268Thr
XR_001755700.2:n.7468T>C
NM_138270.4:c.7055T>C	NP_612114.2:p.Ile2352Thr
NM_000489.6:c.7169T>C MANE Select	NP_000480.3:p.Ile2390Thr
NM_138270.5:c.7055T>C	NP_612114.2:p.Ile2352Thr