Canonical Allele Identifier: CA413703513

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633302A>G , CM000685.2:g.77633302A>G	GRCh38
NC_000023.10:g.76888790A>G , CM000685.1:g.76888790A>G	GRCh37
NC_000023.9:g.76775446A>G	NCBI36
NG_008838.2:g.157920T>C
NG_008838.3:g.157968T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5039T>C MANE Select	NP_000480.3:p.Ile1680Thr
ENST00000373344.11:c.5039T>C MANE Select	ENSP00000362441.4:p.Ile1680Thr
NM_000489.4:c.5039T>C	NP_000480.3:p.Ile1680Thr
NM_000489.5:c.5039T>C	NP_000480.3:p.Ile1680Thr
NM_138270.3:c.4925T>C	NP_612114.2:p.Ile1642Thr
NM_138270.4:c.4925T>C	NP_612114.2:p.Ile1642Thr
NM_138270.5:c.4925T>C	NP_612114.2:p.Ile1642Thr
ENST00000373344.9:c.5039T>C	ENSP00000362441.4:p.Ile1680Thr
ENST00000395603.7:c.4925T>C	ENSP00000378967.3:p.Ile1642Thr
ENST00000400866.4:c.20T>C	ENSP00000383663.3:p.Ile7Thr
ENST00000480283.5:c.*4667T>C	ENSP00000480196.1:n.*4667T>C
ENST00000624403.1:n.383T>C
ENST00000675732.1:c.137T>C	ENSP00000502598.1:p.Ile46Thr
ENST00000675908.1:n.774T>C
XM_005262153.3:c.5036T>C	XP_005262210.2:p.Ile1679Thr
XM_005262153.5:c.5036T>C	XP_005262210.2:p.Ile1679Thr
XM_005262154.3:c.4952T>C	XP_005262211.2:p.Ile1651Thr
XM_005262154.5:c.4952T>C	XP_005262211.2:p.Ile1651Thr
XM_005262155.3:c.4922T>C	XP_005262212.2:p.Ile1641Thr
XM_005262155.4:c.4922T>C	XP_005262212.2:p.Ile1641Thr
XM_005262156.3:c.4874T>C	XP_005262213.2:p.Ile1625Thr
XM_005262156.4:c.4874T>C	XP_005262213.2:p.Ile1625Thr
XM_005262157.3:c.4835T>C	XP_005262214.2:p.Ile1612Thr
XM_005262157.5:c.4835T>C	XP_005262214.2:p.Ile1612Thr
XM_006724666.2:c.4922T>C	XP_006724729.1:p.Ile1641Thr
XM_006724666.4:c.4922T>C	XP_006724729.1:p.Ile1641Thr
XM_006724667.2:c.4760T>C	XP_006724730.1:p.Ile1587Thr
XM_006724667.3:c.4760T>C	XP_006724730.1:p.Ile1587Thr
XM_006724668.2:c.5039T>C	XP_006724731.1:p.Ile1680Thr
XM_006724668.3:c.5039T>C	XP_006724731.1:p.Ile1680Thr
XM_017029601.2:c.4949T>C	XP_016885090.1:p.Ile1650Thr
XM_017029602.1:c.4919T>C	XP_016885091.1:p.Ile1640Thr
XM_017029603.1:c.4871T>C	XP_016885092.1:p.Ile1624Thr
XM_017029604.2:c.4838T>C	XP_016885093.1:p.Ile1613Thr
XM_017029605.1:c.4835T>C	XP_016885094.1:p.Ile1612Thr
XM_017029606.2:c.4808T>C	XP_016885095.1:p.Ile1603Thr
XM_017029607.2:c.4805T>C	XP_016885096.1:p.Ile1602Thr
XM_017029608.2:c.4757T>C	XP_016885097.1:p.Ile1586Thr
XM_017029609.1:c.4721T>C	XP_016885098.1:p.Ile1574Thr
XM_017029610.1:c.4718T>C	XP_016885099.1:p.Ile1573Thr
XM_017029611.1:c.4673T>C	XP_016885100.1:p.Ile1558Thr
XR_001755700.2:n.5264T>C
XR_938400.1:n.5307T>C