Canonical Allele Identifier: CA413704768

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764026A>G (hg19) ; chrX:g.77508548A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508548A>G , CM000685.2:g.77508548A>G	GRCh38
NC_000023.10:g.76764026A>G , CM000685.1:g.76764026A>G	GRCh37
NC_000023.9:g.76650682A>G	NCBI36
NG_008838.2:g.282674T>C
NG_008838.3:g.282722T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7282T>C MANE Select	ENSP00000362441.4:p.Tyr2428His
ENST00000675732.1:c.2380T>C	ENSP00000502598.1:p.Tyr794His
ENST00000373344.9:c.7282T>C	ENSP00000362441.4:p.Tyr2428His
ENST00000395603.7:c.7168T>C	ENSP00000378967.3:p.Tyr2390His
ENST00000480283.5:c.*6910T>C	ENSP00000480196.1:n.*6910T>C
ENST00000623706.3:n.5602T>C
ENST00000624766.1:n.513T>C
NM_000489.4:c.7282T>C	NP_000480.3:p.Tyr2428His
NM_138270.3:c.7168T>C	NP_612114.2:p.Tyr2390His
XM_005262153.3:c.7279T>C	XP_005262210.2:p.Tyr2427His
XM_005262154.3:c.7195T>C	XP_005262211.2:p.Tyr2399His
XM_005262155.3:c.7165T>C	XP_005262212.2:p.Tyr2389His
XM_005262156.3:c.7117T>C	XP_005262213.2:p.Tyr2373His
XM_005262157.3:c.7078T>C	XP_005262214.2:p.Tyr2360His
XM_006724666.2:c.7165T>C	XP_006724729.1:p.Tyr2389His
XM_006724667.2:c.7003T>C	XP_006724730.1:p.Tyr2335His
XR_938400.1:n.8874T>C
NM_000489.5:c.7282T>C	NP_000480.3:p.Tyr2428His
XM_005262153.5:c.7279T>C	XP_005262210.2:p.Tyr2427His
XM_005262154.5:c.7195T>C	XP_005262211.2:p.Tyr2399His
XM_005262155.4:c.7165T>C	XP_005262212.2:p.Tyr2389His
XM_005262156.4:c.7117T>C	XP_005262213.2:p.Tyr2373His
XM_005262157.5:c.7078T>C	XP_005262214.2:p.Tyr2360His
XM_006724666.4:c.7165T>C	XP_006724729.1:p.Tyr2389His
XM_006724667.3:c.7003T>C	XP_006724730.1:p.Tyr2335His
XM_017029601.2:c.7192T>C	XP_016885090.1:p.Tyr2398His
XM_017029602.1:c.7162T>C	XP_016885091.1:p.Tyr2388His
XM_017029603.1:c.7114T>C	XP_016885092.1:p.Tyr2372His
XM_017029604.2:c.7081T>C	XP_016885093.1:p.Tyr2361His
XM_017029605.1:c.7078T>C	XP_016885094.1:p.Tyr2360His
XM_017029606.2:c.7051T>C	XP_016885095.1:p.Tyr2351His
XM_017029607.2:c.7048T>C	XP_016885096.1:p.Tyr2350His
XM_017029608.2:c.7000T>C	XP_016885097.1:p.Tyr2334His
XM_017029609.1:c.6964T>C	XP_016885098.1:p.Tyr2322His
XM_017029610.1:c.6961T>C	XP_016885099.1:p.Tyr2321His
XM_017029611.1:c.6916T>C	XP_016885100.1:p.Tyr2306His
XR_001755700.2:n.7581T>C
NM_138270.4:c.7168T>C	NP_612114.2:p.Tyr2390His
NM_000489.6:c.7282T>C MANE Select	NP_000480.3:p.Tyr2428His
NM_138270.5:c.7168T>C	NP_612114.2:p.Tyr2390His