Canonical Allele Identifier: CA413704825

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764032T>G (hg19) ; chrX:g.77508554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508554T>G , CM000685.2:g.77508554T>G	GRCh38
NC_000023.10:g.76764032T>G , CM000685.1:g.76764032T>G	GRCh37
NC_000023.9:g.76650688T>G	NCBI36
NG_008838.2:g.282668A>C
NG_008838.3:g.282716A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7276A>C MANE Select	ENSP00000362441.4:p.Met2426Leu
ENST00000675732.1:c.2374A>C	ENSP00000502598.1:p.Met792Leu
ENST00000373344.9:c.7276A>C	ENSP00000362441.4:p.Met2426Leu
ENST00000395603.7:c.7162A>C	ENSP00000378967.3:p.Met2388Leu
ENST00000480283.5:c.*6904A>C	ENSP00000480196.1:n.*6904A>C
ENST00000623706.3:n.5596A>C
ENST00000624766.1:n.507A>C
NM_000489.4:c.7276A>C	NP_000480.3:p.Met2426Leu
NM_138270.3:c.7162A>C	NP_612114.2:p.Met2388Leu
XM_005262153.3:c.7273A>C	XP_005262210.2:p.Met2425Leu
XM_005262154.3:c.7189A>C	XP_005262211.2:p.Met2397Leu
XM_005262155.3:c.7159A>C	XP_005262212.2:p.Met2387Leu
XM_005262156.3:c.7111A>C	XP_005262213.2:p.Met2371Leu
XM_005262157.3:c.7072A>C	XP_005262214.2:p.Met2358Leu
XM_006724666.2:c.7159A>C	XP_006724729.1:p.Met2387Leu
XM_006724667.2:c.6997A>C	XP_006724730.1:p.Met2333Leu
XR_938400.1:n.8868A>C
NM_000489.5:c.7276A>C	NP_000480.3:p.Met2426Leu
XM_005262153.5:c.7273A>C	XP_005262210.2:p.Met2425Leu
XM_005262154.5:c.7189A>C	XP_005262211.2:p.Met2397Leu
XM_005262155.4:c.7159A>C	XP_005262212.2:p.Met2387Leu
XM_005262156.4:c.7111A>C	XP_005262213.2:p.Met2371Leu
XM_005262157.5:c.7072A>C	XP_005262214.2:p.Met2358Leu
XM_006724666.4:c.7159A>C	XP_006724729.1:p.Met2387Leu
XM_006724667.3:c.6997A>C	XP_006724730.1:p.Met2333Leu
XM_017029601.2:c.7186A>C	XP_016885090.1:p.Met2396Leu
XM_017029602.1:c.7156A>C	XP_016885091.1:p.Met2386Leu
XM_017029603.1:c.7108A>C	XP_016885092.1:p.Met2370Leu
XM_017029604.2:c.7075A>C	XP_016885093.1:p.Met2359Leu
XM_017029605.1:c.7072A>C	XP_016885094.1:p.Met2358Leu
XM_017029606.2:c.7045A>C	XP_016885095.1:p.Met2349Leu
XM_017029607.2:c.7042A>C	XP_016885096.1:p.Met2348Leu
XM_017029608.2:c.6994A>C	XP_016885097.1:p.Met2332Leu
XM_017029609.1:c.6958A>C	XP_016885098.1:p.Met2320Leu
XM_017029610.1:c.6955A>C	XP_016885099.1:p.Met2319Leu
XM_017029611.1:c.6910A>C	XP_016885100.1:p.Met2304Leu
XR_001755700.2:n.7575A>C
NM_138270.4:c.7162A>C	NP_612114.2:p.Met2388Leu
NM_000489.6:c.7276A>C MANE Select	NP_000480.3:p.Met2426Leu
NM_138270.5:c.7162A>C	NP_612114.2:p.Met2388Leu