Canonical Allele Identifier: CA413708707

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907787C>A (hg19) ; chrX:g.77652297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652297C>A , CM000685.2:g.77652297C>A	GRCh38
NC_000023.10:g.76907787C>A , CM000685.1:g.76907787C>A	GRCh37
NC_000023.9:g.76794443C>A	NCBI36
NG_008838.2:g.138925G>T
NG_008838.3:g.138973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4374G>T MANE Select	ENSP00000362441.4:p.Glu1458Asp
ENST00000373344.9:c.4374G>T	ENSP00000362441.4:p.Glu1458Asp
ENST00000395603.7:c.4260G>T	ENSP00000378967.3:p.Glu1420Asp
ENST00000480283.5:c.*4002G>T	ENSP00000480196.1:n.*4002G>T
NM_000489.4:c.4374G>T	NP_000480.3:p.Glu1458Asp
NM_138270.3:c.4260G>T	NP_612114.2:p.Glu1420Asp
XM_005262153.3:c.4371G>T	XP_005262210.2:p.Glu1457Asp
XM_005262154.3:c.4287G>T	XP_005262211.2:p.Glu1429Asp
XM_005262155.3:c.4257G>T	XP_005262212.2:p.Glu1419Asp
XM_005262156.3:c.4209G>T	XP_005262213.2:p.Glu1403Asp
XM_005262157.3:c.4170G>T	XP_005262214.2:p.Glu1390Asp
XM_006724666.2:c.4257G>T	XP_006724729.1:p.Glu1419Asp
XM_006724667.2:c.4095G>T	XP_006724730.1:p.Glu1365Asp
XM_006724668.2:c.4374G>T	XP_006724731.1:p.Glu1458Asp
XR_938400.1:n.4642G>T
NM_000489.5:c.4374G>T	NP_000480.3:p.Glu1458Asp
XM_005262153.5:c.4371G>T	XP_005262210.2:p.Glu1457Asp
XM_005262154.5:c.4287G>T	XP_005262211.2:p.Glu1429Asp
XM_005262155.4:c.4257G>T	XP_005262212.2:p.Glu1419Asp
XM_005262156.4:c.4209G>T	XP_005262213.2:p.Glu1403Asp
XM_005262157.5:c.4170G>T	XP_005262214.2:p.Glu1390Asp
XM_006724666.4:c.4257G>T	XP_006724729.1:p.Glu1419Asp
XM_006724667.3:c.4095G>T	XP_006724730.1:p.Glu1365Asp
XM_006724668.3:c.4374G>T	XP_006724731.1:p.Glu1458Asp
XM_017029601.2:c.4284G>T	XP_016885090.1:p.Glu1428Asp
XM_017029602.1:c.4254G>T	XP_016885091.1:p.Glu1418Asp
XM_017029603.1:c.4206G>T	XP_016885092.1:p.Glu1402Asp
XM_017029604.2:c.4173G>T	XP_016885093.1:p.Glu1391Asp
XM_017029605.1:c.4170G>T	XP_016885094.1:p.Glu1390Asp
XM_017029606.2:c.4143G>T	XP_016885095.1:p.Glu1381Asp
XM_017029607.2:c.4140G>T	XP_016885096.1:p.Glu1380Asp
XM_017029608.2:c.4092G>T	XP_016885097.1:p.Glu1364Asp
XM_017029609.1:c.4056G>T	XP_016885098.1:p.Glu1352Asp
XM_017029610.1:c.4053G>T	XP_016885099.1:p.Glu1351Asp
XM_017029611.1:c.4008G>T	XP_016885100.1:p.Glu1336Asp
XR_001755700.2:n.4599G>T
NM_138270.4:c.4260G>T	NP_612114.2:p.Glu1420Asp
NM_000489.6:c.4374G>T MANE Select	NP_000480.3:p.Glu1458Asp
NM_138270.5:c.4260G>T	NP_612114.2:p.Glu1420Asp