Canonical Allele Identifier: CA413704500

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763992G>A (hg19) ; chrX:g.77508514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508514G>A , CM000685.2:g.77508514G>A	GRCh38
NC_000023.10:g.76763992G>A , CM000685.1:g.76763992G>A	GRCh37
NC_000023.9:g.76650648G>A	NCBI36
NG_008838.2:g.282708C>T
NG_008838.3:g.282756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7316C>T MANE Select	ENSP00000362441.4:p.Pro2439Leu
ENST00000675732.1:c.2414C>T	ENSP00000502598.1:p.Pro805Leu
ENST00000373344.9:c.7316C>T	ENSP00000362441.4:p.Pro2439Leu
ENST00000395603.7:c.7202C>T	ENSP00000378967.3:p.Pro2401Leu
ENST00000480283.5:c.*6944C>T	ENSP00000480196.1:n.*6944C>T
ENST00000623706.3:n.5636C>T
ENST00000624766.1:n.547C>T
NM_000489.4:c.7316C>T	NP_000480.3:p.Pro2439Leu
NM_138270.3:c.7202C>T	NP_612114.2:p.Pro2401Leu
XM_005262153.3:c.7313C>T	XP_005262210.2:p.Pro2438Leu
XM_005262154.3:c.7229C>T	XP_005262211.2:p.Pro2410Leu
XM_005262155.3:c.7199C>T	XP_005262212.2:p.Pro2400Leu
XM_005262156.3:c.7151C>T	XP_005262213.2:p.Pro2384Leu
XM_005262157.3:c.7112C>T	XP_005262214.2:p.Pro2371Leu
XM_006724666.2:c.7199C>T	XP_006724729.1:p.Pro2400Leu
XM_006724667.2:c.7037C>T	XP_006724730.1:p.Pro2346Leu
XR_938400.1:n.8908C>T
NM_000489.5:c.7316C>T	NP_000480.3:p.Pro2439Leu
XM_005262153.5:c.7313C>T	XP_005262210.2:p.Pro2438Leu
XM_005262154.5:c.7229C>T	XP_005262211.2:p.Pro2410Leu
XM_005262155.4:c.7199C>T	XP_005262212.2:p.Pro2400Leu
XM_005262156.4:c.7151C>T	XP_005262213.2:p.Pro2384Leu
XM_005262157.5:c.7112C>T	XP_005262214.2:p.Pro2371Leu
XM_006724666.4:c.7199C>T	XP_006724729.1:p.Pro2400Leu
XM_006724667.3:c.7037C>T	XP_006724730.1:p.Pro2346Leu
XM_017029601.2:c.7226C>T	XP_016885090.1:p.Pro2409Leu
XM_017029602.1:c.7196C>T	XP_016885091.1:p.Pro2399Leu
XM_017029603.1:c.7148C>T	XP_016885092.1:p.Pro2383Leu
XM_017029604.2:c.7115C>T	XP_016885093.1:p.Pro2372Leu
XM_017029605.1:c.7112C>T	XP_016885094.1:p.Pro2371Leu
XM_017029606.2:c.7085C>T	XP_016885095.1:p.Pro2362Leu
XM_017029607.2:c.7082C>T	XP_016885096.1:p.Pro2361Leu
XM_017029608.2:c.7034C>T	XP_016885097.1:p.Pro2345Leu
XM_017029609.1:c.6998C>T	XP_016885098.1:p.Pro2333Leu
XM_017029610.1:c.6995C>T	XP_016885099.1:p.Pro2332Leu
XM_017029611.1:c.6950C>T	XP_016885100.1:p.Pro2317Leu
XR_001755700.2:n.7615C>T
NM_138270.4:c.7202C>T	NP_612114.2:p.Pro2401Leu
NM_000489.6:c.7316C>T MANE Select	NP_000480.3:p.Pro2439Leu
NM_138270.5:c.7202C>T	NP_612114.2:p.Pro2401Leu