Canonical Allele Identifier: CA413704861

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764037T>A (hg19) ; chrX:g.77508559T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508559T>A , CM000685.2:g.77508559T>A	GRCh38
NC_000023.10:g.76764037T>A , CM000685.1:g.76764037T>A	GRCh37
NC_000023.9:g.76650693T>A	NCBI36
NG_008838.2:g.282663A>T
NG_008838.3:g.282711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7271A>T MANE Select	ENSP00000362441.4:p.Gln2424Leu
ENST00000675732.1:c.2369A>T	ENSP00000502598.1:p.Gln790Leu
ENST00000373344.9:c.7271A>T	ENSP00000362441.4:p.Gln2424Leu
ENST00000395603.7:c.7157A>T	ENSP00000378967.3:p.Gln2386Leu
ENST00000480283.5:c.*6899A>T	ENSP00000480196.1:n.*6899A>T
ENST00000623706.3:n.5591A>T
ENST00000624766.1:n.502A>T
NM_000489.4:c.7271A>T	NP_000480.3:p.Gln2424Leu
NM_138270.3:c.7157A>T	NP_612114.2:p.Gln2386Leu
XM_005262153.3:c.7268A>T	XP_005262210.2:p.Gln2423Leu
XM_005262154.3:c.7184A>T	XP_005262211.2:p.Gln2395Leu
XM_005262155.3:c.7154A>T	XP_005262212.2:p.Gln2385Leu
XM_005262156.3:c.7106A>T	XP_005262213.2:p.Gln2369Leu
XM_005262157.3:c.7067A>T	XP_005262214.2:p.Gln2356Leu
XM_006724666.2:c.7154A>T	XP_006724729.1:p.Gln2385Leu
XM_006724667.2:c.6992A>T	XP_006724730.1:p.Gln2331Leu
XR_938400.1:n.8863A>T
NM_000489.5:c.7271A>T	NP_000480.3:p.Gln2424Leu
XM_005262153.5:c.7268A>T	XP_005262210.2:p.Gln2423Leu
XM_005262154.5:c.7184A>T	XP_005262211.2:p.Gln2395Leu
XM_005262155.4:c.7154A>T	XP_005262212.2:p.Gln2385Leu
XM_005262156.4:c.7106A>T	XP_005262213.2:p.Gln2369Leu
XM_005262157.5:c.7067A>T	XP_005262214.2:p.Gln2356Leu
XM_006724666.4:c.7154A>T	XP_006724729.1:p.Gln2385Leu
XM_006724667.3:c.6992A>T	XP_006724730.1:p.Gln2331Leu
XM_017029601.2:c.7181A>T	XP_016885090.1:p.Gln2394Leu
XM_017029602.1:c.7151A>T	XP_016885091.1:p.Gln2384Leu
XM_017029603.1:c.7103A>T	XP_016885092.1:p.Gln2368Leu
XM_017029604.2:c.7070A>T	XP_016885093.1:p.Gln2357Leu
XM_017029605.1:c.7067A>T	XP_016885094.1:p.Gln2356Leu
XM_017029606.2:c.7040A>T	XP_016885095.1:p.Gln2347Leu
XM_017029607.2:c.7037A>T	XP_016885096.1:p.Gln2346Leu
XM_017029608.2:c.6989A>T	XP_016885097.1:p.Gln2330Leu
XM_017029609.1:c.6953A>T	XP_016885098.1:p.Gln2318Leu
XM_017029610.1:c.6950A>T	XP_016885099.1:p.Gln2317Leu
XM_017029611.1:c.6905A>T	XP_016885100.1:p.Gln2302Leu
XR_001755700.2:n.7570A>T
NM_138270.4:c.7157A>T	NP_612114.2:p.Gln2386Leu
NM_000489.6:c.7271A>T MANE Select	NP_000480.3:p.Gln2424Leu
NM_138270.5:c.7157A>T	NP_612114.2:p.Gln2386Leu