Canonical Allele Identifier: CA413708295

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76907723T>G (hg19) ; chrX:g.77652233T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652233T>G , CM000685.2:g.77652233T>G	GRCh38
NC_000023.10:g.76907723T>G , CM000685.1:g.76907723T>G	GRCh37
NC_000023.9:g.76794379T>G	NCBI36
NG_008838.2:g.138989A>C
NG_008838.3:g.139037A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4438A>C MANE Select	ENSP00000362441.4:p.Ile1480Leu
ENST00000373344.9:c.4438A>C	ENSP00000362441.4:p.Ile1480Leu
ENST00000395603.7:c.4324A>C	ENSP00000378967.3:p.Ile1442Leu
ENST00000480283.5:c.*4066A>C	ENSP00000480196.1:n.*4066A>C
ENST00000623242.3:c.44A>C
NM_000489.4:c.4438A>C	NP_000480.3:p.Ile1480Leu
NM_138270.3:c.4324A>C	NP_612114.2:p.Ile1442Leu
XM_005262153.3:c.4435A>C	XP_005262210.2:p.Ile1479Leu
XM_005262154.3:c.4351A>C	XP_005262211.2:p.Ile1451Leu
XM_005262155.3:c.4321A>C	XP_005262212.2:p.Ile1441Leu
XM_005262156.3:c.4273A>C	XP_005262213.2:p.Ile1425Leu
XM_005262157.3:c.4234A>C	XP_005262214.2:p.Ile1412Leu
XM_006724666.2:c.4321A>C	XP_006724729.1:p.Ile1441Leu
XM_006724667.2:c.4159A>C	XP_006724730.1:p.Ile1387Leu
XM_006724668.2:c.4438A>C	XP_006724731.1:p.Ile1480Leu
XR_938400.1:n.4706A>C
NM_000489.5:c.4438A>C	NP_000480.3:p.Ile1480Leu
XM_005262153.5:c.4435A>C	XP_005262210.2:p.Ile1479Leu
XM_005262154.5:c.4351A>C	XP_005262211.2:p.Ile1451Leu
XM_005262155.4:c.4321A>C	XP_005262212.2:p.Ile1441Leu
XM_005262156.4:c.4273A>C	XP_005262213.2:p.Ile1425Leu
XM_005262157.5:c.4234A>C	XP_005262214.2:p.Ile1412Leu
XM_006724666.4:c.4321A>C	XP_006724729.1:p.Ile1441Leu
XM_006724667.3:c.4159A>C	XP_006724730.1:p.Ile1387Leu
XM_006724668.3:c.4438A>C	XP_006724731.1:p.Ile1480Leu
XM_017029601.2:c.4348A>C	XP_016885090.1:p.Ile1450Leu
XM_017029602.1:c.4318A>C	XP_016885091.1:p.Ile1440Leu
XM_017029603.1:c.4270A>C	XP_016885092.1:p.Ile1424Leu
XM_017029604.2:c.4237A>C	XP_016885093.1:p.Ile1413Leu
XM_017029605.1:c.4234A>C	XP_016885094.1:p.Ile1412Leu
XM_017029606.2:c.4207A>C	XP_016885095.1:p.Ile1403Leu
XM_017029607.2:c.4204A>C	XP_016885096.1:p.Ile1402Leu
XM_017029608.2:c.4156A>C	XP_016885097.1:p.Ile1386Leu
XM_017029609.1:c.4120A>C	XP_016885098.1:p.Ile1374Leu
XM_017029610.1:c.4117A>C	XP_016885099.1:p.Ile1373Leu
XM_017029611.1:c.4072A>C	XP_016885100.1:p.Ile1358Leu
XR_001755700.2:n.4663A>C
NM_138270.4:c.4324A>C	NP_612114.2:p.Ile1442Leu
NM_000489.6:c.4438A>C MANE Select	NP_000480.3:p.Ile1480Leu
NM_138270.5:c.4324A>C	NP_612114.2:p.Ile1442Leu