Canonical Allele Identifier: CA413720571

Gene: ATRX

Linked Data

• dbSNP Id: rs2148637164
• MyVariant Identifiers: chrX:g.76939926C>A (hg19) ; chrX:g.77684434C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684434C>A , CM000685.2:g.77684434C>A	GRCh38
NC_000023.10:g.76939926C>A , CM000685.1:g.76939926C>A	GRCh37
NC_000023.9:g.76826582C>A	NCBI36
NG_008838.2:g.106788G>T
NG_008838.3:g.106836G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.822G>T MANE Select	ENSP00000362441.4:p.Leu274Phe
ENST00000373344.9:c.822G>T	ENSP00000362441.4:p.Leu274Phe
ENST00000395603.7:c.708G>T	ENSP00000378967.3:p.Leu236Phe
ENST00000480283.5:c.*450G>T	ENSP00000480196.1:n.*450G>T
ENST00000623321.3:c.657G>T	ENSP00000485127.1:p.Leu219Phe
ENST00000624032.3:c.822G>T	ENSP00000485253.1:p.Leu274Phe
ENST00000624166.3:c.705G>T	ENSP00000485103.1:p.Leu235Phe
NM_000489.4:c.822G>T	NP_000480.3:p.Leu274Phe
NM_138270.3:c.708G>T	NP_612114.2:p.Leu236Phe
XM_005262153.3:c.819G>T	XP_005262210.2:p.Leu273Phe
XM_005262154.3:c.822G>T	XP_005262211.2:p.Leu274Phe
XM_005262155.3:c.705G>T	XP_005262212.2:p.Leu235Phe
XM_005262156.3:c.657G>T	XP_005262213.2:p.Leu219Phe
XM_005262157.3:c.705G>T	XP_005262214.2:p.Leu235Phe
XM_006724666.2:c.705G>T	XP_006724729.1:p.Leu235Phe
XM_006724667.2:c.543G>T	XP_006724730.1:p.Leu181Phe
XM_006724668.2:c.822G>T	XP_006724731.1:p.Leu274Phe
XR_938400.1:n.1090G>T
NM_000489.5:c.822G>T	NP_000480.3:p.Leu274Phe
XM_005262153.5:c.819G>T	XP_005262210.2:p.Leu273Phe
XM_005262154.5:c.822G>T	XP_005262211.2:p.Leu274Phe
XM_005262155.4:c.705G>T	XP_005262212.2:p.Leu235Phe
XM_005262156.4:c.657G>T	XP_005262213.2:p.Leu219Phe
XM_005262157.5:c.705G>T	XP_005262214.2:p.Leu235Phe
XM_006724666.4:c.705G>T	XP_006724729.1:p.Leu235Phe
XM_006724667.3:c.543G>T	XP_006724730.1:p.Leu181Phe
XM_006724668.3:c.822G>T	XP_006724731.1:p.Leu274Phe
XM_017029601.2:c.819G>T	XP_016885090.1:p.Leu273Phe
XM_017029602.1:c.702G>T	XP_016885091.1:p.Leu234Phe
XM_017029603.1:c.654G>T	XP_016885092.1:p.Leu218Phe
XM_017029604.2:c.708G>T	XP_016885093.1:p.Leu236Phe
XM_017029605.1:c.705G>T	XP_016885094.1:p.Leu235Phe
XM_017029606.2:c.591G>T	XP_016885095.1:p.Leu197Phe
XM_017029607.2:c.588G>T	XP_016885096.1:p.Leu196Phe
XM_017029608.2:c.540G>T	XP_016885097.1:p.Leu180Phe
XM_017029609.1:c.591G>T	XP_016885098.1:p.Leu197Phe
XM_017029610.1:c.588G>T	XP_016885099.1:p.Leu196Phe
XM_017029611.1:c.543G>T	XP_016885100.1:p.Leu181Phe
XR_001755700.2:n.1047G>T
NM_138270.4:c.708G>T	NP_612114.2:p.Leu236Phe
NM_000489.6:c.822G>T MANE Select	NP_000480.3:p.Leu274Phe
NM_138270.5:c.708G>T	NP_612114.2:p.Leu236Phe