Canonical Allele Identifier: CA413712192

Gene: ATRX

Linked Data

• dbSNP Id: rs782705007
• MyVariant Identifiers: chrX:g.76938264C>A (hg19) ; chrX:g.77682772C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682772C>A , CM000685.2:g.77682772C>A	GRCh38
NC_000023.10:g.76938264C>A , CM000685.1:g.76938264C>A	GRCh37
NC_000023.9:g.76824920C>A	NCBI36
NG_008838.2:g.108450G>T
NG_008838.3:g.108498G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.2484G>T MANE Select	ENSP00000362441.4:p.Met828Ile
ENST00000373344.9:c.2484G>T	ENSP00000362441.4:p.Met828Ile
ENST00000395603.7:c.2370G>T	ENSP00000378967.3:p.Met790Ile
ENST00000480283.5:c.*2112G>T	ENSP00000480196.1:n.*2112G>T
ENST00000624032.3:c.2397G>T	ENSP00000485253.1:p.Met799Ile
ENST00000624166.3:c.2280G>T	ENSP00000485103.1:p.Met760Ile
NM_000489.4:c.2484G>T	NP_000480.3:p.Met828Ile
NM_138270.3:c.2370G>T	NP_612114.2:p.Met790Ile
XM_005262153.3:c.2481G>T	XP_005262210.2:p.Met827Ile
XM_005262154.3:c.2397G>T	XP_005262211.2:p.Met799Ile
XM_005262155.3:c.2367G>T	XP_005262212.2:p.Met789Ile
XM_005262156.3:c.2319G>T	XP_005262213.2:p.Met773Ile
XM_005262157.3:c.2280G>T	XP_005262214.2:p.Met760Ile
XM_006724666.2:c.2367G>T	XP_006724729.1:p.Met789Ile
XM_006724667.2:c.2205G>T	XP_006724730.1:p.Met735Ile
XM_006724668.2:c.2484G>T	XP_006724731.1:p.Met828Ile
XR_938400.1:n.2752G>T
NM_000489.5:c.2484G>T	NP_000480.3:p.Met828Ile
XM_005262153.5:c.2481G>T	XP_005262210.2:p.Met827Ile
XM_005262154.5:c.2397G>T	XP_005262211.2:p.Met799Ile
XM_005262155.4:c.2367G>T	XP_005262212.2:p.Met789Ile
XM_005262156.4:c.2319G>T	XP_005262213.2:p.Met773Ile
XM_005262157.5:c.2280G>T	XP_005262214.2:p.Met760Ile
XM_006724666.4:c.2367G>T	XP_006724729.1:p.Met789Ile
XM_006724667.3:c.2205G>T	XP_006724730.1:p.Met735Ile
XM_006724668.3:c.2484G>T	XP_006724731.1:p.Met828Ile
XM_017029601.2:c.2394G>T	XP_016885090.1:p.Met798Ile
XM_017029602.1:c.2364G>T	XP_016885091.1:p.Met788Ile
XM_017029603.1:c.2316G>T	XP_016885092.1:p.Met772Ile
XM_017029604.2:c.2283G>T	XP_016885093.1:p.Met761Ile
XM_017029605.1:c.2280G>T	XP_016885094.1:p.Met760Ile
XM_017029606.2:c.2253G>T	XP_016885095.1:p.Met751Ile
XM_017029607.2:c.2250G>T	XP_016885096.1:p.Met750Ile
XM_017029608.2:c.2202G>T	XP_016885097.1:p.Met734Ile
XM_017029609.1:c.2166G>T	XP_016885098.1:p.Met722Ile
XM_017029610.1:c.2163G>T	XP_016885099.1:p.Met721Ile
XM_017029611.1:c.2118G>T	XP_016885100.1:p.Met706Ile
XR_001755700.2:n.2709G>T
NM_138270.4:c.2370G>T	NP_612114.2:p.Met790Ile
NM_000489.6:c.2484G>T MANE Select	NP_000480.3:p.Met828Ile
NM_138270.5:c.2370G>T	NP_612114.2:p.Met790Ile