Canonical Allele Identifier: CA413704338

Gene: ATRX

Linked Data

• dbSNP Id: rs781817460
• MyVariant Identifiers: chrX:g.76763973G>C (hg19) ; chrX:g.77508495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508495G>C , CM000685.2:g.77508495G>C	GRCh38
NC_000023.10:g.76763973G>C , CM000685.1:g.76763973G>C	GRCh37
NC_000023.9:g.76650629G>C	NCBI36
NG_008838.2:g.282727C>G
NG_008838.3:g.282775C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7335C>G MANE Select	ENSP00000362441.4:p.Ile2445Met
ENST00000675732.1:c.2433C>G	ENSP00000502598.1:p.Ile811Met
ENST00000373344.9:c.7335C>G	ENSP00000362441.4:p.Ile2445Met
ENST00000395603.7:c.7221C>G	ENSP00000378967.3:p.Ile2407Met
ENST00000480283.5:c.*6963C>G	ENSP00000480196.1:n.*6963C>G
ENST00000623706.3:n.5655C>G
ENST00000624766.1:n.566C>G
NM_000489.4:c.7335C>G	NP_000480.3:p.Ile2445Met
NM_138270.3:c.7221C>G	NP_612114.2:p.Ile2407Met
XM_005262153.3:c.7332C>G	XP_005262210.2:p.Ile2444Met
XM_005262154.3:c.7248C>G	XP_005262211.2:p.Ile2416Met
XM_005262155.3:c.7218C>G	XP_005262212.2:p.Ile2406Met
XM_005262156.3:c.7170C>G	XP_005262213.2:p.Ile2390Met
XM_005262157.3:c.7131C>G	XP_005262214.2:p.Ile2377Met
XM_006724666.2:c.7218C>G	XP_006724729.1:p.Ile2406Met
XM_006724667.2:c.7056C>G	XP_006724730.1:p.Ile2352Met
XR_938400.1:n.8927C>G
NM_000489.5:c.7335C>G	NP_000480.3:p.Ile2445Met
XM_005262153.5:c.7332C>G	XP_005262210.2:p.Ile2444Met
XM_005262154.5:c.7248C>G	XP_005262211.2:p.Ile2416Met
XM_005262155.4:c.7218C>G	XP_005262212.2:p.Ile2406Met
XM_005262156.4:c.7170C>G	XP_005262213.2:p.Ile2390Met
XM_005262157.5:c.7131C>G	XP_005262214.2:p.Ile2377Met
XM_006724666.4:c.7218C>G	XP_006724729.1:p.Ile2406Met
XM_006724667.3:c.7056C>G	XP_006724730.1:p.Ile2352Met
XM_017029601.2:c.7245C>G	XP_016885090.1:p.Ile2415Met
XM_017029602.1:c.7215C>G	XP_016885091.1:p.Ile2405Met
XM_017029603.1:c.7167C>G	XP_016885092.1:p.Ile2389Met
XM_017029604.2:c.7134C>G	XP_016885093.1:p.Ile2378Met
XM_017029605.1:c.7131C>G	XP_016885094.1:p.Ile2377Met
XM_017029606.2:c.7104C>G	XP_016885095.1:p.Ile2368Met
XM_017029607.2:c.7101C>G	XP_016885096.1:p.Ile2367Met
XM_017029608.2:c.7053C>G	XP_016885097.1:p.Ile2351Met
XM_017029609.1:c.7017C>G	XP_016885098.1:p.Ile2339Met
XM_017029610.1:c.7014C>G	XP_016885099.1:p.Ile2338Met
XM_017029611.1:c.6969C>G	XP_016885100.1:p.Ile2323Met
XR_001755700.2:n.7634C>G
NM_138270.4:c.7221C>G	NP_612114.2:p.Ile2407Met
NM_000489.6:c.7335C>G MANE Select	NP_000480.3:p.Ile2445Met
NM_138270.5:c.7221C>G	NP_612114.2:p.Ile2407Met