Canonical Allele Identifier: CA413703776

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763892T>G (hg19) ; chrX:g.77508414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508414T>G , CM000685.2:g.77508414T>G	GRCh38
NC_000023.10:g.76763892T>G , CM000685.1:g.76763892T>G	GRCh37
NC_000023.9:g.76650548T>G	NCBI36
NG_008838.2:g.282808A>C
NG_008838.3:g.282856A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7416A>C MANE Select	ENSP00000362441.4:p.Leu2472Phe
ENST00000675732.1:c.2514A>C	ENSP00000502598.1:p.Leu838Phe
ENST00000373344.9:c.7416A>C	ENSP00000362441.4:p.Leu2472Phe
ENST00000395603.7:c.7302A>C	ENSP00000378967.3:p.Leu2434Phe
ENST00000480283.5:c.*7044A>C	ENSP00000480196.1:n.*7044A>C
ENST00000623706.3:n.5736A>C
NM_000489.4:c.7416A>C	NP_000480.3:p.Leu2472Phe
NM_138270.3:c.7302A>C	NP_612114.2:p.Leu2434Phe
XM_005262153.3:c.7413A>C	XP_005262210.2:p.Leu2471Phe
XM_005262154.3:c.7329A>C	XP_005262211.2:p.Leu2443Phe
XM_005262155.3:c.7299A>C	XP_005262212.2:p.Leu2433Phe
XM_005262156.3:c.7251A>C	XP_005262213.2:p.Leu2417Phe
XM_005262157.3:c.7212A>C	XP_005262214.2:p.Leu2404Phe
XM_006724666.2:c.7299A>C	XP_006724729.1:p.Leu2433Phe
XM_006724667.2:c.7137A>C	XP_006724730.1:p.Leu2379Phe
XR_938400.1:n.9008A>C
NM_000489.5:c.7416A>C	NP_000480.3:p.Leu2472Phe
XM_005262153.5:c.7413A>C	XP_005262210.2:p.Leu2471Phe
XM_005262154.5:c.7329A>C	XP_005262211.2:p.Leu2443Phe
XM_005262155.4:c.7299A>C	XP_005262212.2:p.Leu2433Phe
XM_005262156.4:c.7251A>C	XP_005262213.2:p.Leu2417Phe
XM_005262157.5:c.7212A>C	XP_005262214.2:p.Leu2404Phe
XM_006724666.4:c.7299A>C	XP_006724729.1:p.Leu2433Phe
XM_006724667.3:c.7137A>C	XP_006724730.1:p.Leu2379Phe
XM_017029601.2:c.7326A>C	XP_016885090.1:p.Leu2442Phe
XM_017029602.1:c.7296A>C	XP_016885091.1:p.Leu2432Phe
XM_017029603.1:c.7248A>C	XP_016885092.1:p.Leu2416Phe
XM_017029604.2:c.7215A>C	XP_016885093.1:p.Leu2405Phe
XM_017029605.1:c.7212A>C	XP_016885094.1:p.Leu2404Phe
XM_017029606.2:c.7185A>C	XP_016885095.1:p.Leu2395Phe
XM_017029607.2:c.7182A>C	XP_016885096.1:p.Leu2394Phe
XM_017029608.2:c.7134A>C	XP_016885097.1:p.Leu2378Phe
XM_017029609.1:c.7098A>C	XP_016885098.1:p.Leu2366Phe
XM_017029610.1:c.7095A>C	XP_016885099.1:p.Leu2365Phe
XM_017029611.1:c.7050A>C	XP_016885100.1:p.Leu2350Phe
XR_001755700.2:n.7715A>C
NM_138270.4:c.7302A>C	NP_612114.2:p.Leu2434Phe
NM_000489.6:c.7416A>C MANE Select	NP_000480.3:p.Leu2472Phe
NM_138270.5:c.7302A>C	NP_612114.2:p.Leu2434Phe