Canonical Allele Identifier: CA413707268

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776343T>G (hg19) ; chrX:g.77520865T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520865T>G , CM000685.2:g.77520865T>G	GRCh38
NC_000023.10:g.76776343T>G , CM000685.1:g.76776343T>G	GRCh37
NC_000023.9:g.76662999T>G	NCBI36
NG_008838.2:g.270357A>C
NG_008838.3:g.270405A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7123A>C MANE Select	ENSP00000362441.4:p.Ser2375Arg
ENST00000675732.1:c.2221A>C	ENSP00000502598.1:p.Ser741Arg
ENST00000373344.9:c.7123A>C	ENSP00000362441.4:p.Ser2375Arg
ENST00000395603.7:c.7009A>C	ENSP00000378967.3:p.Ser2337Arg
ENST00000480283.5:c.*6751A>C	ENSP00000480196.1:n.*6751A>C
ENST00000623706.3:n.5443A>C
ENST00000624766.1:n.354A>C
NM_000489.4:c.7123A>C	NP_000480.3:p.Ser2375Arg
NM_138270.3:c.7009A>C	NP_612114.2:p.Ser2337Arg
XM_005262153.3:c.7120A>C	XP_005262210.2:p.Ser2374Arg
XM_005262154.3:c.7036A>C	XP_005262211.2:p.Ser2346Arg
XM_005262155.3:c.7006A>C	XP_005262212.2:p.Ser2336Arg
XM_005262156.3:c.6958A>C	XP_005262213.2:p.Ser2320Arg
XM_005262157.3:c.6919A>C	XP_005262214.2:p.Ser2307Arg
XM_006724666.2:c.7006A>C	XP_006724729.1:p.Ser2336Arg
XM_006724667.2:c.6844A>C	XP_006724730.1:p.Ser2282Arg
XR_938400.1:n.8715A>C
NM_000489.5:c.7123A>C	NP_000480.3:p.Ser2375Arg
XM_005262153.5:c.7120A>C	XP_005262210.2:p.Ser2374Arg
XM_005262154.5:c.7036A>C	XP_005262211.2:p.Ser2346Arg
XM_005262155.4:c.7006A>C	XP_005262212.2:p.Ser2336Arg
XM_005262156.4:c.6958A>C	XP_005262213.2:p.Ser2320Arg
XM_005262157.5:c.6919A>C	XP_005262214.2:p.Ser2307Arg
XM_006724666.4:c.7006A>C	XP_006724729.1:p.Ser2336Arg
XM_006724667.3:c.6844A>C	XP_006724730.1:p.Ser2282Arg
XM_017029601.2:c.7033A>C	XP_016885090.1:p.Ser2345Arg
XM_017029602.1:c.7003A>C	XP_016885091.1:p.Ser2335Arg
XM_017029603.1:c.6955A>C	XP_016885092.1:p.Ser2319Arg
XM_017029604.2:c.6922A>C	XP_016885093.1:p.Ser2308Arg
XM_017029605.1:c.6919A>C	XP_016885094.1:p.Ser2307Arg
XM_017029606.2:c.6892A>C	XP_016885095.1:p.Ser2298Arg
XM_017029607.2:c.6889A>C	XP_016885096.1:p.Ser2297Arg
XM_017029608.2:c.6841A>C	XP_016885097.1:p.Ser2281Arg
XM_017029609.1:c.6805A>C	XP_016885098.1:p.Ser2269Arg
XM_017029610.1:c.6802A>C	XP_016885099.1:p.Ser2268Arg
XM_017029611.1:c.6757A>C	XP_016885100.1:p.Ser2253Arg
XR_001755700.2:n.7422A>C
NM_138270.4:c.7009A>C	NP_612114.2:p.Ser2337Arg
NM_000489.6:c.7123A>C MANE Select	NP_000480.3:p.Ser2375Arg
NM_138270.5:c.7009A>C	NP_612114.2:p.Ser2337Arg