Canonical Allele Identifier: CA413707558

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77521408C>A , CM000685.2:g.77521408C>A	GRCh38
NC_000023.10:g.76776886C>A , CM000685.1:g.76776886C>A	GRCh37
NC_000023.9:g.76663542C>A	NCBI36
NG_008838.2:g.269814G>T
NG_008838.3:g.269862G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.7066G>T MANE Select	NP_000480.3:p.Ala2356Ser
ENST00000373344.11:c.7066G>T MANE Select	ENSP00000362441.4:p.Ala2356Ser
NM_000489.4:c.7066G>T	NP_000480.3:p.Ala2356Ser
NM_000489.5:c.7066G>T	NP_000480.3:p.Ala2356Ser
NM_138270.3:c.6952G>T	NP_612114.2:p.Ala2318Ser
NM_138270.4:c.6952G>T	NP_612114.2:p.Ala2318Ser
NM_138270.5:c.6952G>T	NP_612114.2:p.Ala2318Ser
ENST00000373344.9:c.7066G>T	ENSP00000362441.4:p.Ala2356Ser
ENST00000395603.7:c.6952G>T	ENSP00000378967.3:p.Ala2318Ser
ENST00000480283.5:c.*6694G>T	ENSP00000480196.1:n.*6694G>T
ENST00000623706.3:n.4900G>T
ENST00000624766.1:n.297G>T
ENST00000637959.1:n.14G>T
ENST00000675732.1:c.2164G>T	ENSP00000502598.1:p.Ala722Ser
XM_005262153.3:c.7063G>T	XP_005262210.2:p.Ala2355Ser
XM_005262153.5:c.7063G>T	XP_005262210.2:p.Ala2355Ser
XM_005262154.3:c.6979G>T	XP_005262211.2:p.Ala2327Ser
XM_005262154.5:c.6979G>T	XP_005262211.2:p.Ala2327Ser
XM_005262155.3:c.6949G>T	XP_005262212.2:p.Ala2317Ser
XM_005262155.4:c.6949G>T	XP_005262212.2:p.Ala2317Ser
XM_005262156.3:c.6901G>T	XP_005262213.2:p.Ala2301Ser
XM_005262156.4:c.6901G>T	XP_005262213.2:p.Ala2301Ser
XM_005262157.3:c.6862G>T	XP_005262214.2:p.Ala2288Ser
XM_005262157.5:c.6862G>T	XP_005262214.2:p.Ala2288Ser
XM_006724666.2:c.6949G>T	XP_006724729.1:p.Ala2317Ser
XM_006724666.4:c.6949G>T	XP_006724729.1:p.Ala2317Ser
XM_006724667.2:c.6787G>T	XP_006724730.1:p.Ala2263Ser
XM_006724667.3:c.6787G>T	XP_006724730.1:p.Ala2263Ser
XM_017029601.2:c.6976G>T	XP_016885090.1:p.Ala2326Ser
XM_017029602.1:c.6946G>T	XP_016885091.1:p.Ala2316Ser
XM_017029603.1:c.6898G>T	XP_016885092.1:p.Ala2300Ser
XM_017029604.2:c.6865G>T	XP_016885093.1:p.Ala2289Ser
XM_017029605.1:c.6862G>T	XP_016885094.1:p.Ala2288Ser
XM_017029606.2:c.6835G>T	XP_016885095.1:p.Ala2279Ser
XM_017029607.2:c.6832G>T	XP_016885096.1:p.Ala2278Ser
XM_017029608.2:c.6784G>T	XP_016885097.1:p.Ala2262Ser
XM_017029609.1:c.6748G>T	XP_016885098.1:p.Ala2250Ser
XM_017029610.1:c.6745G>T	XP_016885099.1:p.Ala2249Ser
XM_017029611.1:c.6700G>T	XP_016885100.1:p.Ala2234Ser
XR_001755700.2:n.7365G>T
XR_938400.1:n.8172G>T