Canonical Allele Identifier: CA517473237

Gene: ATRX

Linked Data

• dbSNP Id: rs2148637028
• MyVariant Identifiers: chrX:g.76939922A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77684430A>G , CM000685.2:g.77684430A>G	GRCh38
NC_000023.10:g.76939922A>G , CM000685.1:g.76939922A>G	GRCh37
NC_000023.9:g.76826578A>G	NCBI36
NG_008838.2:g.106792T>C
NG_008838.3:g.106840T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.826T>C MANE Select	ENSP00000362441.4:p.Leu276=
ENST00000373344.9:c.826T>C	ENSP00000362441.4:p.Leu276=
ENST00000395603.7:c.712T>C	ENSP00000378967.3:p.Leu238=
ENST00000480283.5:c.*454T>C	ENSP00000480196.1:n.*454T>C
ENST00000623321.3:c.661T>C	ENSP00000485127.1:p.Leu221=
ENST00000624032.3:c.826T>C	ENSP00000485253.1:p.Leu276=
ENST00000624166.3:c.709T>C	ENSP00000485103.1:p.Leu237=
NM_000489.4:c.826T>C	NP_000480.3:p.Leu276=
NM_138270.3:c.712T>C	NP_612114.2:p.Leu238=
XM_005262153.3:c.823T>C	XP_005262210.2:p.Leu275=
XM_005262154.3:c.826T>C	XP_005262211.2:p.Leu276=
XM_005262155.3:c.709T>C	XP_005262212.2:p.Leu237=
XM_005262156.3:c.661T>C	XP_005262213.2:p.Leu221=
XM_005262157.3:c.709T>C	XP_005262214.2:p.Leu237=
XM_006724666.2:c.709T>C	XP_006724729.1:p.Leu237=
XM_006724667.2:c.547T>C	XP_006724730.1:p.Leu183=
XM_006724668.2:c.826T>C	XP_006724731.1:p.Leu276=
XR_938400.1:n.1094T>C
NM_000489.5:c.826T>C	NP_000480.3:p.Leu276=
XM_005262153.5:c.823T>C	XP_005262210.2:p.Leu275=
XM_005262154.5:c.826T>C	XP_005262211.2:p.Leu276=
XM_005262155.4:c.709T>C	XP_005262212.2:p.Leu237=
XM_005262156.4:c.661T>C	XP_005262213.2:p.Leu221=
XM_005262157.5:c.709T>C	XP_005262214.2:p.Leu237=
XM_006724666.4:c.709T>C	XP_006724729.1:p.Leu237=
XM_006724667.3:c.547T>C	XP_006724730.1:p.Leu183=
XM_006724668.3:c.826T>C	XP_006724731.1:p.Leu276=
XM_017029601.2:c.823T>C	XP_016885090.1:p.Leu275=
XM_017029602.1:c.706T>C	XP_016885091.1:p.Leu236=
XM_017029603.1:c.658T>C	XP_016885092.1:p.Leu220=
XM_017029604.2:c.712T>C	XP_016885093.1:p.Leu238=
XM_017029605.1:c.709T>C	XP_016885094.1:p.Leu237=
XM_017029606.2:c.595T>C	XP_016885095.1:p.Leu199=
XM_017029607.2:c.592T>C	XP_016885096.1:p.Leu198=
XM_017029608.2:c.544T>C	XP_016885097.1:p.Leu182=
XM_017029609.1:c.595T>C	XP_016885098.1:p.Leu199=
XM_017029610.1:c.592T>C	XP_016885099.1:p.Leu198=
XM_017029611.1:c.547T>C	XP_016885100.1:p.Leu183=
XR_001755700.2:n.1051T>C
NM_138270.4:c.712T>C	NP_612114.2:p.Leu238=
NM_000489.6:c.826T>C MANE Select	NP_000480.3:p.Leu276=
NM_138270.5:c.712T>C	NP_612114.2:p.Leu238=