Canonical Allele Identifier: CA413707216

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76776331T>G (hg19) ; chrX:g.77520853T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520853T>G , CM000685.2:g.77520853T>G	GRCh38
NC_000023.10:g.76776331T>G , CM000685.1:g.76776331T>G	GRCh37
NC_000023.9:g.76662987T>G	NCBI36
NG_008838.2:g.270369A>C
NG_008838.3:g.270417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7135A>C MANE Select	ENSP00000362441.4:p.Ser2379Arg
ENST00000675732.1:c.2233A>C	ENSP00000502598.1:p.Ser745Arg
ENST00000373344.9:c.7135A>C	ENSP00000362441.4:p.Ser2379Arg
ENST00000395603.7:c.7021A>C	ENSP00000378967.3:p.Ser2341Arg
ENST00000480283.5:c.*6763A>C	ENSP00000480196.1:n.*6763A>C
ENST00000623706.3:n.5455A>C
ENST00000624766.1:n.366A>C
NM_000489.4:c.7135A>C	NP_000480.3:p.Ser2379Arg
NM_138270.3:c.7021A>C	NP_612114.2:p.Ser2341Arg
XM_005262153.3:c.7132A>C	XP_005262210.2:p.Ser2378Arg
XM_005262154.3:c.7048A>C	XP_005262211.2:p.Ser2350Arg
XM_005262155.3:c.7018A>C	XP_005262212.2:p.Ser2340Arg
XM_005262156.3:c.6970A>C	XP_005262213.2:p.Ser2324Arg
XM_005262157.3:c.6931A>C	XP_005262214.2:p.Ser2311Arg
XM_006724666.2:c.7018A>C	XP_006724729.1:p.Ser2340Arg
XM_006724667.2:c.6856A>C	XP_006724730.1:p.Ser2286Arg
XR_938400.1:n.8727A>C
NM_000489.5:c.7135A>C	NP_000480.3:p.Ser2379Arg
XM_005262153.5:c.7132A>C	XP_005262210.2:p.Ser2378Arg
XM_005262154.5:c.7048A>C	XP_005262211.2:p.Ser2350Arg
XM_005262155.4:c.7018A>C	XP_005262212.2:p.Ser2340Arg
XM_005262156.4:c.6970A>C	XP_005262213.2:p.Ser2324Arg
XM_005262157.5:c.6931A>C	XP_005262214.2:p.Ser2311Arg
XM_006724666.4:c.7018A>C	XP_006724729.1:p.Ser2340Arg
XM_006724667.3:c.6856A>C	XP_006724730.1:p.Ser2286Arg
XM_017029601.2:c.7045A>C	XP_016885090.1:p.Ser2349Arg
XM_017029602.1:c.7015A>C	XP_016885091.1:p.Ser2339Arg
XM_017029603.1:c.6967A>C	XP_016885092.1:p.Ser2323Arg
XM_017029604.2:c.6934A>C	XP_016885093.1:p.Ser2312Arg
XM_017029605.1:c.6931A>C	XP_016885094.1:p.Ser2311Arg
XM_017029606.2:c.6904A>C	XP_016885095.1:p.Ser2302Arg
XM_017029607.2:c.6901A>C	XP_016885096.1:p.Ser2301Arg
XM_017029608.2:c.6853A>C	XP_016885097.1:p.Ser2285Arg
XM_017029609.1:c.6817A>C	XP_016885098.1:p.Ser2273Arg
XM_017029610.1:c.6814A>C	XP_016885099.1:p.Ser2272Arg
XM_017029611.1:c.6769A>C	XP_016885100.1:p.Ser2257Arg
XR_001755700.2:n.7434A>C
NM_138270.4:c.7021A>C	NP_612114.2:p.Ser2341Arg
NM_000489.6:c.7135A>C MANE Select	NP_000480.3:p.Ser2379Arg
NM_138270.5:c.7021A>C	NP_612114.2:p.Ser2341Arg