Canonical Allele Identifier: CA413704128

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763944T>G (hg19) ; chrX:g.77508466T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508466T>G , CM000685.2:g.77508466T>G	GRCh38
NC_000023.10:g.76763944T>G , CM000685.1:g.76763944T>G	GRCh37
NC_000023.9:g.76650600T>G	NCBI36
NG_008838.2:g.282756A>C
NG_008838.3:g.282804A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7364A>C MANE Select	ENSP00000362441.4:p.Asp2455Ala
ENST00000675732.1:c.2462A>C	ENSP00000502598.1:p.Asp821Ala
ENST00000373344.9:c.7364A>C	ENSP00000362441.4:p.Asp2455Ala
ENST00000395603.7:c.7250A>C	ENSP00000378967.3:p.Asp2417Ala
ENST00000480283.5:c.*6992A>C	ENSP00000480196.1:n.*6992A>C
ENST00000623706.3:n.5684A>C
NM_000489.4:c.7364A>C	NP_000480.3:p.Asp2455Ala
NM_138270.3:c.7250A>C	NP_612114.2:p.Asp2417Ala
XM_005262153.3:c.7361A>C	XP_005262210.2:p.Asp2454Ala
XM_005262154.3:c.7277A>C	XP_005262211.2:p.Asp2426Ala
XM_005262155.3:c.7247A>C	XP_005262212.2:p.Asp2416Ala
XM_005262156.3:c.7199A>C	XP_005262213.2:p.Asp2400Ala
XM_005262157.3:c.7160A>C	XP_005262214.2:p.Asp2387Ala
XM_006724666.2:c.7247A>C	XP_006724729.1:p.Asp2416Ala
XM_006724667.2:c.7085A>C	XP_006724730.1:p.Asp2362Ala
XR_938400.1:n.8956A>C
NM_000489.5:c.7364A>C	NP_000480.3:p.Asp2455Ala
XM_005262153.5:c.7361A>C	XP_005262210.2:p.Asp2454Ala
XM_005262154.5:c.7277A>C	XP_005262211.2:p.Asp2426Ala
XM_005262155.4:c.7247A>C	XP_005262212.2:p.Asp2416Ala
XM_005262156.4:c.7199A>C	XP_005262213.2:p.Asp2400Ala
XM_005262157.5:c.7160A>C	XP_005262214.2:p.Asp2387Ala
XM_006724666.4:c.7247A>C	XP_006724729.1:p.Asp2416Ala
XM_006724667.3:c.7085A>C	XP_006724730.1:p.Asp2362Ala
XM_017029601.2:c.7274A>C	XP_016885090.1:p.Asp2425Ala
XM_017029602.1:c.7244A>C	XP_016885091.1:p.Asp2415Ala
XM_017029603.1:c.7196A>C	XP_016885092.1:p.Asp2399Ala
XM_017029604.2:c.7163A>C	XP_016885093.1:p.Asp2388Ala
XM_017029605.1:c.7160A>C	XP_016885094.1:p.Asp2387Ala
XM_017029606.2:c.7133A>C	XP_016885095.1:p.Asp2378Ala
XM_017029607.2:c.7130A>C	XP_016885096.1:p.Asp2377Ala
XM_017029608.2:c.7082A>C	XP_016885097.1:p.Asp2361Ala
XM_017029609.1:c.7046A>C	XP_016885098.1:p.Asp2349Ala
XM_017029610.1:c.7043A>C	XP_016885099.1:p.Asp2348Ala
XM_017029611.1:c.6998A>C	XP_016885100.1:p.Asp2333Ala
XR_001755700.2:n.7663A>C
NM_138270.4:c.7250A>C	NP_612114.2:p.Asp2417Ala
NM_000489.6:c.7364A>C MANE Select	NP_000480.3:p.Asp2455Ala
NM_138270.5:c.7250A>C	NP_612114.2:p.Asp2417Ala