Canonical Allele Identifier: CA517374430

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776374G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520896G>T , CM000685.2:g.77520896G>T	GRCh38
NC_000023.10:g.76776374G>T , CM000685.1:g.76776374G>T	GRCh37
NC_000023.9:g.76663030G>T	NCBI36
NG_008838.2:g.270326C>A
NG_008838.3:g.270374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7092C>A MANE Select	ENSP00000362441.4:p.Leu2364=
ENST00000675732.1:c.2190C>A	ENSP00000502598.1:p.Leu730=
ENST00000373344.9:c.7092C>A	ENSP00000362441.4:p.Leu2364=
ENST00000395603.7:c.6978C>A	ENSP00000378967.3:p.Leu2326=
ENST00000480283.5:c.*6720C>A	ENSP00000480196.1:n.*6720C>A
ENST00000623706.3:n.5412C>A
ENST00000624766.1:n.323C>A
NM_000489.4:c.7092C>A	NP_000480.3:p.Leu2364=
NM_138270.3:c.6978C>A	NP_612114.2:p.Leu2326=
XM_005262153.3:c.7089C>A	XP_005262210.2:p.Leu2363=
XM_005262154.3:c.7005C>A	XP_005262211.2:p.Leu2335=
XM_005262155.3:c.6975C>A	XP_005262212.2:p.Leu2325=
XM_005262156.3:c.6927C>A	XP_005262213.2:p.Leu2309=
XM_005262157.3:c.6888C>A	XP_005262214.2:p.Leu2296=
XM_006724666.2:c.6975C>A	XP_006724729.1:p.Leu2325=
XM_006724667.2:c.6813C>A	XP_006724730.1:p.Leu2271=
XR_938400.1:n.8684C>A
NM_000489.5:c.7092C>A	NP_000480.3:p.Leu2364=
XM_005262153.5:c.7089C>A	XP_005262210.2:p.Leu2363=
XM_005262154.5:c.7005C>A	XP_005262211.2:p.Leu2335=
XM_005262155.4:c.6975C>A	XP_005262212.2:p.Leu2325=
XM_005262156.4:c.6927C>A	XP_005262213.2:p.Leu2309=
XM_005262157.5:c.6888C>A	XP_005262214.2:p.Leu2296=
XM_006724666.4:c.6975C>A	XP_006724729.1:p.Leu2325=
XM_006724667.3:c.6813C>A	XP_006724730.1:p.Leu2271=
XM_017029601.2:c.7002C>A	XP_016885090.1:p.Leu2334=
XM_017029602.1:c.6972C>A	XP_016885091.1:p.Leu2324=
XM_017029603.1:c.6924C>A	XP_016885092.1:p.Leu2308=
XM_017029604.2:c.6891C>A	XP_016885093.1:p.Leu2297=
XM_017029605.1:c.6888C>A	XP_016885094.1:p.Leu2296=
XM_017029606.2:c.6861C>A	XP_016885095.1:p.Leu2287=
XM_017029607.2:c.6858C>A	XP_016885096.1:p.Leu2286=
XM_017029608.2:c.6810C>A	XP_016885097.1:p.Leu2270=
XM_017029609.1:c.6774C>A	XP_016885098.1:p.Leu2258=
XM_017029610.1:c.6771C>A	XP_016885099.1:p.Leu2257=
XM_017029611.1:c.6726C>A	XP_016885100.1:p.Leu2242=
XR_001755700.2:n.7391C>A
NM_138270.4:c.6978C>A	NP_612114.2:p.Leu2326=
NM_000489.6:c.7092C>A MANE Select	NP_000480.3:p.Leu2364=
NM_138270.5:c.6978C>A	NP_612114.2:p.Leu2326=