Canonical Allele Identifier: CA517373949

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763835T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508357T>A , CM000685.2:g.77508357T>A	GRCh38
NC_000023.10:g.76763835T>A , CM000685.1:g.76763835T>A	GRCh37
NC_000023.9:g.76650491T>A	NCBI36
NG_008838.2:g.282865A>T
NG_008838.3:g.282913A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7473A>T MANE Select	ENSP00000362441.4:p.Ser2491=
ENST00000675732.1:c.2571A>T	ENSP00000502598.1:p.Ser857=
ENST00000373344.9:c.7473A>T	ENSP00000362441.4:p.Ser2491=
ENST00000395603.7:c.7359A>T	ENSP00000378967.3:p.Ser2453=
ENST00000480283.5:c.*7101A>T	ENSP00000480196.1:n.*7101A>T
ENST00000623706.3:n.5793A>T
NM_000489.4:c.7473A>T	NP_000480.3:p.Ser2491=
NM_138270.3:c.7359A>T	NP_612114.2:p.Ser2453=
XM_005262153.3:c.7470A>T	XP_005262210.2:p.Ser2490=
XM_005262154.3:c.7386A>T	XP_005262211.2:p.Ser2462=
XM_005262155.3:c.7356A>T	XP_005262212.2:p.Ser2452=
XM_005262156.3:c.7308A>T	XP_005262213.2:p.Ser2436=
XM_005262157.3:c.7269A>T	XP_005262214.2:p.Ser2423=
XM_006724666.2:c.7356A>T	XP_006724729.1:p.Ser2452=
XM_006724667.2:c.7194A>T	XP_006724730.1:p.Ser2398=
XR_938400.1:n.9065A>T
NM_000489.5:c.7473A>T	NP_000480.3:p.Ser2491=
XM_005262153.5:c.7470A>T	XP_005262210.2:p.Ser2490=
XM_005262154.5:c.7386A>T	XP_005262211.2:p.Ser2462=
XM_005262155.4:c.7356A>T	XP_005262212.2:p.Ser2452=
XM_005262156.4:c.7308A>T	XP_005262213.2:p.Ser2436=
XM_005262157.5:c.7269A>T	XP_005262214.2:p.Ser2423=
XM_006724666.4:c.7356A>T	XP_006724729.1:p.Ser2452=
XM_006724667.3:c.7194A>T	XP_006724730.1:p.Ser2398=
XM_017029601.2:c.7383A>T	XP_016885090.1:p.Ser2461=
XM_017029602.1:c.7353A>T	XP_016885091.1:p.Ser2451=
XM_017029603.1:c.7305A>T	XP_016885092.1:p.Ser2435=
XM_017029604.2:c.7272A>T	XP_016885093.1:p.Ser2424=
XM_017029605.1:c.7269A>T	XP_016885094.1:p.Ser2423=
XM_017029606.2:c.7242A>T	XP_016885095.1:p.Ser2414=
XM_017029607.2:c.7239A>T	XP_016885096.1:p.Ser2413=
XM_017029608.2:c.7191A>T	XP_016885097.1:p.Ser2397=
XM_017029609.1:c.7155A>T	XP_016885098.1:p.Ser2385=
XM_017029610.1:c.7152A>T	XP_016885099.1:p.Ser2384=
XM_017029611.1:c.7107A>T	XP_016885100.1:p.Ser2369=
XR_001755700.2:n.7772A>T
NM_138270.4:c.7359A>T	NP_612114.2:p.Ser2453=
NM_000489.6:c.7473A>T MANE Select	NP_000480.3:p.Ser2491=
NM_138270.5:c.7359A>T	NP_612114.2:p.Ser2453=