Canonical Allele Identifier: CA413703596

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763869C>G (hg19) ; chrX:g.77508391C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508391C>G , CM000685.2:g.77508391C>G	GRCh38
NC_000023.10:g.76763869C>G , CM000685.1:g.76763869C>G	GRCh37
NC_000023.9:g.76650525C>G	NCBI36
NG_008838.2:g.282831G>C
NG_008838.3:g.282879G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7439G>C MANE Select	ENSP00000362441.4:p.Arg2480Thr
ENST00000675732.1:c.2537G>C	ENSP00000502598.1:p.Arg846Thr
ENST00000373344.9:c.7439G>C	ENSP00000362441.4:p.Arg2480Thr
ENST00000395603.7:c.7325G>C	ENSP00000378967.3:p.Arg2442Thr
ENST00000480283.5:c.*7067G>C	ENSP00000480196.1:n.*7067G>C
ENST00000623706.3:n.5759G>C
NM_000489.4:c.7439G>C	NP_000480.3:p.Arg2480Thr
NM_138270.3:c.7325G>C	NP_612114.2:p.Arg2442Thr
XM_005262153.3:c.7436G>C	XP_005262210.2:p.Arg2479Thr
XM_005262154.3:c.7352G>C	XP_005262211.2:p.Arg2451Thr
XM_005262155.3:c.7322G>C	XP_005262212.2:p.Arg2441Thr
XM_005262156.3:c.7274G>C	XP_005262213.2:p.Arg2425Thr
XM_005262157.3:c.7235G>C	XP_005262214.2:p.Arg2412Thr
XM_006724666.2:c.7322G>C	XP_006724729.1:p.Arg2441Thr
XM_006724667.2:c.7160G>C	XP_006724730.1:p.Arg2387Thr
XR_938400.1:n.9031G>C
NM_000489.5:c.7439G>C	NP_000480.3:p.Arg2480Thr
XM_005262153.5:c.7436G>C	XP_005262210.2:p.Arg2479Thr
XM_005262154.5:c.7352G>C	XP_005262211.2:p.Arg2451Thr
XM_005262155.4:c.7322G>C	XP_005262212.2:p.Arg2441Thr
XM_005262156.4:c.7274G>C	XP_005262213.2:p.Arg2425Thr
XM_005262157.5:c.7235G>C	XP_005262214.2:p.Arg2412Thr
XM_006724666.4:c.7322G>C	XP_006724729.1:p.Arg2441Thr
XM_006724667.3:c.7160G>C	XP_006724730.1:p.Arg2387Thr
XM_017029601.2:c.7349G>C	XP_016885090.1:p.Arg2450Thr
XM_017029602.1:c.7319G>C	XP_016885091.1:p.Arg2440Thr
XM_017029603.1:c.7271G>C	XP_016885092.1:p.Arg2424Thr
XM_017029604.2:c.7238G>C	XP_016885093.1:p.Arg2413Thr
XM_017029605.1:c.7235G>C	XP_016885094.1:p.Arg2412Thr
XM_017029606.2:c.7208G>C	XP_016885095.1:p.Arg2403Thr
XM_017029607.2:c.7205G>C	XP_016885096.1:p.Arg2402Thr
XM_017029608.2:c.7157G>C	XP_016885097.1:p.Arg2386Thr
XM_017029609.1:c.7121G>C	XP_016885098.1:p.Arg2374Thr
XM_017029610.1:c.7118G>C	XP_016885099.1:p.Arg2373Thr
XM_017029611.1:c.7073G>C	XP_016885100.1:p.Arg2358Thr
XR_001755700.2:n.7738G>C
NM_138270.4:c.7325G>C	NP_612114.2:p.Arg2442Thr
NM_000489.6:c.7439G>C MANE Select	NP_000480.3:p.Arg2480Thr
NM_138270.5:c.7325G>C	NP_612114.2:p.Arg2442Thr