Canonical Allele Identifier: CA10457965

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77681869C>T , CM000685.2:g.77681869C>T	GRCh38
NC_000023.10:g.76937361C>T , CM000685.1:g.76937361C>T	GRCh37
NC_000023.9:g.76824017C>T	NCBI36
NG_008838.2:g.109353G>A
NG_008838.3:g.109401G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.3387G>A MANE Select	NP_000480.3:p.Leu1129=
ENST00000373344.11:c.3387G>A MANE Select	ENSP00000362441.4:p.Leu1129=
NM_000489.4:c.3387G>A	NP_000480.3:p.Leu1129=
NM_000489.5:c.3387G>A	NP_000480.3:p.Leu1129=
NM_138270.3:c.3273G>A	NP_612114.2:p.Leu1091=
NM_138270.4:c.3273G>A	NP_612114.2:p.Leu1091=
NM_138270.5:c.3273G>A	NP_612114.2:p.Leu1091=
ENST00000373344.9:c.3387G>A	ENSP00000362441.4:p.Leu1129=
ENST00000395603.7:c.3273G>A	ENSP00000378967.3:p.Leu1091=
ENST00000480283.5:c.*3015G>A	ENSP00000480196.1:n.*3015G>A
ENST00000493470.2:c.273G>A	ENSP00000485408.1:p.Leu91=
ENST00000624166.3:c.3183G>A	ENSP00000485103.1:p.Leu1061=
XM_005262153.3:c.3384G>A	XP_005262210.2:p.Leu1128=
XM_005262153.5:c.3384G>A	XP_005262210.2:p.Leu1128=
XM_005262154.3:c.3300G>A	XP_005262211.2:p.Leu1100=
XM_005262154.5:c.3300G>A	XP_005262211.2:p.Leu1100=
XM_005262155.3:c.3270G>A	XP_005262212.2:p.Leu1090=
XM_005262155.4:c.3270G>A	XP_005262212.2:p.Leu1090=
XM_005262156.3:c.3222G>A	XP_005262213.2:p.Leu1074=
XM_005262156.4:c.3222G>A	XP_005262213.2:p.Leu1074=
XM_005262157.3:c.3183G>A	XP_005262214.2:p.Leu1061=
XM_005262157.5:c.3183G>A	XP_005262214.2:p.Leu1061=
XM_006724666.2:c.3270G>A	XP_006724729.1:p.Leu1090=
XM_006724666.4:c.3270G>A	XP_006724729.1:p.Leu1090=
XM_006724667.2:c.3108G>A	XP_006724730.1:p.Leu1036=
XM_006724667.3:c.3108G>A	XP_006724730.1:p.Leu1036=
XM_006724668.2:c.3387G>A	XP_006724731.1:p.Leu1129=
XM_006724668.3:c.3387G>A	XP_006724731.1:p.Leu1129=
XM_017029601.2:c.3297G>A	XP_016885090.1:p.Leu1099=
XM_017029602.1:c.3267G>A	XP_016885091.1:p.Leu1089=
XM_017029603.1:c.3219G>A	XP_016885092.1:p.Leu1073=
XM_017029604.2:c.3186G>A	XP_016885093.1:p.Leu1062=
XM_017029605.1:c.3183G>A	XP_016885094.1:p.Leu1061=
XM_017029606.2:c.3156G>A	XP_016885095.1:p.Leu1052=
XM_017029607.2:c.3153G>A	XP_016885096.1:p.Leu1051=
XM_017029608.2:c.3105G>A	XP_016885097.1:p.Leu1035=
XM_017029609.1:c.3069G>A	XP_016885098.1:p.Leu1023=
XM_017029610.1:c.3066G>A	XP_016885099.1:p.Leu1022=
XM_017029611.1:c.3021G>A	XP_016885100.1:p.Leu1007=
XR_001755700.2:n.3612G>A
XR_938400.1:n.3655G>A