Canonical Allele Identifier: CA413706229

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76937193C>A (hg19) ; chrX:g.77681701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681701C>A , CM000685.2:g.77681701C>A	GRCh38
NC_000023.10:g.76937193C>A , CM000685.1:g.76937193C>A	GRCh37
NC_000023.9:g.76823849C>A	NCBI36
NG_008838.2:g.109521G>T
NG_008838.3:g.109569G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.3555G>T MANE Select	ENSP00000362441.4:p.Lys1185Asn
ENST00000373344.9:c.3555G>T	ENSP00000362441.4:p.Lys1185Asn
ENST00000395603.7:c.3441G>T	ENSP00000378967.3:p.Lys1147Asn
ENST00000480283.5:c.*3183G>T	ENSP00000480196.1:n.*3183G>T
ENST00000493470.2:c.441G>T	ENSP00000485408.1:p.Lys147Asn
ENST00000624166.3:c.3351G>T	ENSP00000485103.1:p.Lys1117Asn
NM_000489.4:c.3555G>T	NP_000480.3:p.Lys1185Asn
NM_138270.3:c.3441G>T	NP_612114.2:p.Lys1147Asn
XM_005262153.3:c.3552G>T	XP_005262210.2:p.Lys1184Asn
XM_005262154.3:c.3468G>T	XP_005262211.2:p.Lys1156Asn
XM_005262155.3:c.3438G>T	XP_005262212.2:p.Lys1146Asn
XM_005262156.3:c.3390G>T	XP_005262213.2:p.Lys1130Asn
XM_005262157.3:c.3351G>T	XP_005262214.2:p.Lys1117Asn
XM_006724666.2:c.3438G>T	XP_006724729.1:p.Lys1146Asn
XM_006724667.2:c.3276G>T	XP_006724730.1:p.Lys1092Asn
XM_006724668.2:c.3555G>T	XP_006724731.1:p.Lys1185Asn
XR_938400.1:n.3823G>T
NM_000489.5:c.3555G>T	NP_000480.3:p.Lys1185Asn
XM_005262153.5:c.3552G>T	XP_005262210.2:p.Lys1184Asn
XM_005262154.5:c.3468G>T	XP_005262211.2:p.Lys1156Asn
XM_005262155.4:c.3438G>T	XP_005262212.2:p.Lys1146Asn
XM_005262156.4:c.3390G>T	XP_005262213.2:p.Lys1130Asn
XM_005262157.5:c.3351G>T	XP_005262214.2:p.Lys1117Asn
XM_006724666.4:c.3438G>T	XP_006724729.1:p.Lys1146Asn
XM_006724667.3:c.3276G>T	XP_006724730.1:p.Lys1092Asn
XM_006724668.3:c.3555G>T	XP_006724731.1:p.Lys1185Asn
XM_017029601.2:c.3465G>T	XP_016885090.1:p.Lys1155Asn
XM_017029602.1:c.3435G>T	XP_016885091.1:p.Lys1145Asn
XM_017029603.1:c.3387G>T	XP_016885092.1:p.Lys1129Asn
XM_017029604.2:c.3354G>T	XP_016885093.1:p.Lys1118Asn
XM_017029605.1:c.3351G>T	XP_016885094.1:p.Lys1117Asn
XM_017029606.2:c.3324G>T	XP_016885095.1:p.Lys1108Asn
XM_017029607.2:c.3321G>T	XP_016885096.1:p.Lys1107Asn
XM_017029608.2:c.3273G>T	XP_016885097.1:p.Lys1091Asn
XM_017029609.1:c.3237G>T	XP_016885098.1:p.Lys1079Asn
XM_017029610.1:c.3234G>T	XP_016885099.1:p.Lys1078Asn
XM_017029611.1:c.3189G>T	XP_016885100.1:p.Lys1063Asn
XR_001755700.2:n.3780G>T
NM_138270.4:c.3441G>T	NP_612114.2:p.Lys1147Asn
NM_000489.6:c.3555G>T MANE Select	NP_000480.3:p.Lys1185Asn
NM_138270.5:c.3441G>T	NP_612114.2:p.Lys1147Asn