Canonical Allele Identifier: CA413707259

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776342C>A (hg19) ; chrX:g.77520864C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520864C>A , CM000685.2:g.77520864C>A	GRCh38
NC_000023.10:g.76776342C>A , CM000685.1:g.76776342C>A	GRCh37
NC_000023.9:g.76662998C>A	NCBI36
NG_008838.2:g.270358G>T
NG_008838.3:g.270406G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7124G>T MANE Select	ENSP00000362441.4:p.Ser2375Ile
ENST00000675732.1:c.2222G>T	ENSP00000502598.1:p.Ser741Ile
ENST00000373344.9:c.7124G>T	ENSP00000362441.4:p.Ser2375Ile
ENST00000395603.7:c.7010G>T	ENSP00000378967.3:p.Ser2337Ile
ENST00000480283.5:c.*6752G>T	ENSP00000480196.1:n.*6752G>T
ENST00000623706.3:n.5444G>T
ENST00000624766.1:n.355G>T
NM_000489.4:c.7124G>T	NP_000480.3:p.Ser2375Ile
NM_138270.3:c.7010G>T	NP_612114.2:p.Ser2337Ile
XM_005262153.3:c.7121G>T	XP_005262210.2:p.Ser2374Ile
XM_005262154.3:c.7037G>T	XP_005262211.2:p.Ser2346Ile
XM_005262155.3:c.7007G>T	XP_005262212.2:p.Ser2336Ile
XM_005262156.3:c.6959G>T	XP_005262213.2:p.Ser2320Ile
XM_005262157.3:c.6920G>T	XP_005262214.2:p.Ser2307Ile
XM_006724666.2:c.7007G>T	XP_006724729.1:p.Ser2336Ile
XM_006724667.2:c.6845G>T	XP_006724730.1:p.Ser2282Ile
XR_938400.1:n.8716G>T
NM_000489.5:c.7124G>T	NP_000480.3:p.Ser2375Ile
XM_005262153.5:c.7121G>T	XP_005262210.2:p.Ser2374Ile
XM_005262154.5:c.7037G>T	XP_005262211.2:p.Ser2346Ile
XM_005262155.4:c.7007G>T	XP_005262212.2:p.Ser2336Ile
XM_005262156.4:c.6959G>T	XP_005262213.2:p.Ser2320Ile
XM_005262157.5:c.6920G>T	XP_005262214.2:p.Ser2307Ile
XM_006724666.4:c.7007G>T	XP_006724729.1:p.Ser2336Ile
XM_006724667.3:c.6845G>T	XP_006724730.1:p.Ser2282Ile
XM_017029601.2:c.7034G>T	XP_016885090.1:p.Ser2345Ile
XM_017029602.1:c.7004G>T	XP_016885091.1:p.Ser2335Ile
XM_017029603.1:c.6956G>T	XP_016885092.1:p.Ser2319Ile
XM_017029604.2:c.6923G>T	XP_016885093.1:p.Ser2308Ile
XM_017029605.1:c.6920G>T	XP_016885094.1:p.Ser2307Ile
XM_017029606.2:c.6893G>T	XP_016885095.1:p.Ser2298Ile
XM_017029607.2:c.6890G>T	XP_016885096.1:p.Ser2297Ile
XM_017029608.2:c.6842G>T	XP_016885097.1:p.Ser2281Ile
XM_017029609.1:c.6806G>T	XP_016885098.1:p.Ser2269Ile
XM_017029610.1:c.6803G>T	XP_016885099.1:p.Ser2268Ile
XM_017029611.1:c.6758G>T	XP_016885100.1:p.Ser2253Ile
XR_001755700.2:n.7423G>T
NM_138270.4:c.7010G>T	NP_612114.2:p.Ser2337Ile
NM_000489.6:c.7124G>T MANE Select	NP_000480.3:p.Ser2375Ile
NM_138270.5:c.7010G>T	NP_612114.2:p.Ser2337Ile