Canonical Allele Identifier: CA413708076

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907680T>A (hg19) ; chrX:g.77652190T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652190T>A , CM000685.2:g.77652190T>A	GRCh38
NC_000023.10:g.76907680T>A , CM000685.1:g.76907680T>A	GRCh37
NC_000023.9:g.76794336T>A	NCBI36
NG_008838.2:g.139032A>T
NG_008838.3:g.139080A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4481A>T MANE Select	ENSP00000362441.4:p.Gln1494Leu
ENST00000373344.9:c.4481A>T	ENSP00000362441.4:p.Gln1494Leu
ENST00000395603.7:c.4367A>T	ENSP00000378967.3:p.Gln1456Leu
ENST00000480283.5:c.*4109A>T	ENSP00000480196.1:n.*4109A>T
ENST00000623242.3:c.87A>T
NM_000489.4:c.4481A>T	NP_000480.3:p.Gln1494Leu
NM_138270.3:c.4367A>T	NP_612114.2:p.Gln1456Leu
XM_005262153.3:c.4478A>T	XP_005262210.2:p.Gln1493Leu
XM_005262154.3:c.4394A>T	XP_005262211.2:p.Gln1465Leu
XM_005262155.3:c.4364A>T	XP_005262212.2:p.Gln1455Leu
XM_005262156.3:c.4316A>T	XP_005262213.2:p.Gln1439Leu
XM_005262157.3:c.4277A>T	XP_005262214.2:p.Gln1426Leu
XM_006724666.2:c.4364A>T	XP_006724729.1:p.Gln1455Leu
XM_006724667.2:c.4202A>T	XP_006724730.1:p.Gln1401Leu
XM_006724668.2:c.4481A>T	XP_006724731.1:p.Gln1494Leu
XR_938400.1:n.4749A>T
NM_000489.5:c.4481A>T	NP_000480.3:p.Gln1494Leu
XM_005262153.5:c.4478A>T	XP_005262210.2:p.Gln1493Leu
XM_005262154.5:c.4394A>T	XP_005262211.2:p.Gln1465Leu
XM_005262155.4:c.4364A>T	XP_005262212.2:p.Gln1455Leu
XM_005262156.4:c.4316A>T	XP_005262213.2:p.Gln1439Leu
XM_005262157.5:c.4277A>T	XP_005262214.2:p.Gln1426Leu
XM_006724666.4:c.4364A>T	XP_006724729.1:p.Gln1455Leu
XM_006724667.3:c.4202A>T	XP_006724730.1:p.Gln1401Leu
XM_006724668.3:c.4481A>T	XP_006724731.1:p.Gln1494Leu
XM_017029601.2:c.4391A>T	XP_016885090.1:p.Gln1464Leu
XM_017029602.1:c.4361A>T	XP_016885091.1:p.Gln1454Leu
XM_017029603.1:c.4313A>T	XP_016885092.1:p.Gln1438Leu
XM_017029604.2:c.4280A>T	XP_016885093.1:p.Gln1427Leu
XM_017029605.1:c.4277A>T	XP_016885094.1:p.Gln1426Leu
XM_017029606.2:c.4250A>T	XP_016885095.1:p.Gln1417Leu
XM_017029607.2:c.4247A>T	XP_016885096.1:p.Gln1416Leu
XM_017029608.2:c.4199A>T	XP_016885097.1:p.Gln1400Leu
XM_017029609.1:c.4163A>T	XP_016885098.1:p.Gln1388Leu
XM_017029610.1:c.4160A>T	XP_016885099.1:p.Gln1387Leu
XM_017029611.1:c.4115A>T	XP_016885100.1:p.Gln1372Leu
XR_001755700.2:n.4706A>T
NM_138270.4:c.4367A>T	NP_612114.2:p.Gln1456Leu
NM_000489.6:c.4481A>T MANE Select	NP_000480.3:p.Gln1494Leu
NM_138270.5:c.4367A>T	NP_612114.2:p.Gln1456Leu