Canonical Allele Identifier: CA413720568

Gene: ATRX

Linked Data

• dbSNP Id: rs2148637117
• MyVariant Identifiers: chrX:g.76939925C>A (hg19) ; chrX:g.77684433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684433C>A , CM000685.2:g.77684433C>A	GRCh38
NC_000023.10:g.76939925C>A , CM000685.1:g.76939925C>A	GRCh37
NC_000023.9:g.76826581C>A	NCBI36
NG_008838.2:g.106789G>T
NG_008838.3:g.106837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.823G>T MANE Select	ENSP00000362441.4:p.Asp275Tyr
ENST00000373344.9:c.823G>T	ENSP00000362441.4:p.Asp275Tyr
ENST00000395603.7:c.709G>T	ENSP00000378967.3:p.Asp237Tyr
ENST00000480283.5:c.*451G>T	ENSP00000480196.1:n.*451G>T
ENST00000623321.3:c.658G>T	ENSP00000485127.1:p.Asp220Tyr
ENST00000624032.3:c.823G>T	ENSP00000485253.1:p.Asp275Tyr
ENST00000624166.3:c.706G>T	ENSP00000485103.1:p.Asp236Tyr
NM_000489.4:c.823G>T	NP_000480.3:p.Asp275Tyr
NM_138270.3:c.709G>T	NP_612114.2:p.Asp237Tyr
XM_005262153.3:c.820G>T	XP_005262210.2:p.Asp274Tyr
XM_005262154.3:c.823G>T	XP_005262211.2:p.Asp275Tyr
XM_005262155.3:c.706G>T	XP_005262212.2:p.Asp236Tyr
XM_005262156.3:c.658G>T	XP_005262213.2:p.Asp220Tyr
XM_005262157.3:c.706G>T	XP_005262214.2:p.Asp236Tyr
XM_006724666.2:c.706G>T	XP_006724729.1:p.Asp236Tyr
XM_006724667.2:c.544G>T	XP_006724730.1:p.Asp182Tyr
XM_006724668.2:c.823G>T	XP_006724731.1:p.Asp275Tyr
XR_938400.1:n.1091G>T
NM_000489.5:c.823G>T	NP_000480.3:p.Asp275Tyr
XM_005262153.5:c.820G>T	XP_005262210.2:p.Asp274Tyr
XM_005262154.5:c.823G>T	XP_005262211.2:p.Asp275Tyr
XM_005262155.4:c.706G>T	XP_005262212.2:p.Asp236Tyr
XM_005262156.4:c.658G>T	XP_005262213.2:p.Asp220Tyr
XM_005262157.5:c.706G>T	XP_005262214.2:p.Asp236Tyr
XM_006724666.4:c.706G>T	XP_006724729.1:p.Asp236Tyr
XM_006724667.3:c.544G>T	XP_006724730.1:p.Asp182Tyr
XM_006724668.3:c.823G>T	XP_006724731.1:p.Asp275Tyr
XM_017029601.2:c.820G>T	XP_016885090.1:p.Asp274Tyr
XM_017029602.1:c.703G>T	XP_016885091.1:p.Asp235Tyr
XM_017029603.1:c.655G>T	XP_016885092.1:p.Asp219Tyr
XM_017029604.2:c.709G>T	XP_016885093.1:p.Asp237Tyr
XM_017029605.1:c.706G>T	XP_016885094.1:p.Asp236Tyr
XM_017029606.2:c.592G>T	XP_016885095.1:p.Asp198Tyr
XM_017029607.2:c.589G>T	XP_016885096.1:p.Asp197Tyr
XM_017029608.2:c.541G>T	XP_016885097.1:p.Asp181Tyr
XM_017029609.1:c.592G>T	XP_016885098.1:p.Asp198Tyr
XM_017029610.1:c.589G>T	XP_016885099.1:p.Asp197Tyr
XM_017029611.1:c.544G>T	XP_016885100.1:p.Asp182Tyr
XR_001755700.2:n.1048G>T
NM_138270.4:c.709G>T	NP_612114.2:p.Asp237Tyr
NM_000489.6:c.823G>T MANE Select	NP_000480.3:p.Asp275Tyr
NM_138270.5:c.709G>T	NP_612114.2:p.Asp237Tyr