Canonical Allele Identifier: CA413700962

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829746C>A (hg19) ; chrX:g.77574281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574281C>A , CM000685.2:g.77574281C>A	GRCh38
NC_000023.10:g.76829746C>A , CM000685.1:g.76829746C>A	GRCh37
NC_000023.9:g.76716402C>A	NCBI36
NG_008838.2:g.216941G>T
NG_008838.3:g.216989G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6295G>T MANE Select	ENSP00000362441.4:p.Ala2099Ser
ENST00000675732.1:c.1393G>T	ENSP00000502598.1:p.Ala465Ser
ENST00000373344.9:c.6295G>T	ENSP00000362441.4:p.Ala2099Ser
ENST00000395603.7:c.6181G>T	ENSP00000378967.3:p.Ala2061Ser
ENST00000480283.5:c.*5923G>T	ENSP00000480196.1:n.*5923G>T
ENST00000623316.1:c.779G>T
ENST00000623706.3:n.3365G>T
NM_000489.4:c.6295G>T	NP_000480.3:p.Ala2099Ser
NM_138270.3:c.6181G>T	NP_612114.2:p.Ala2061Ser
XM_005262153.3:c.6292G>T	XP_005262210.2:p.Ala2098Ser
XM_005262154.3:c.6208G>T	XP_005262211.2:p.Ala2070Ser
XM_005262155.3:c.6178G>T	XP_005262212.2:p.Ala2060Ser
XM_005262156.3:c.6130G>T	XP_005262213.2:p.Ala2044Ser
XM_005262157.3:c.6091G>T	XP_005262214.2:p.Ala2031Ser
XM_006724666.2:c.6178G>T	XP_006724729.1:p.Ala2060Ser
XM_006724667.2:c.6016G>T	XP_006724730.1:p.Ala2006Ser
XR_938400.1:n.6637G>T
NM_000489.5:c.6295G>T	NP_000480.3:p.Ala2099Ser
XM_005262153.5:c.6292G>T	XP_005262210.2:p.Ala2098Ser
XM_005262154.5:c.6208G>T	XP_005262211.2:p.Ala2070Ser
XM_005262155.4:c.6178G>T	XP_005262212.2:p.Ala2060Ser
XM_005262156.4:c.6130G>T	XP_005262213.2:p.Ala2044Ser
XM_005262157.5:c.6091G>T	XP_005262214.2:p.Ala2031Ser
XM_006724666.4:c.6178G>T	XP_006724729.1:p.Ala2060Ser
XM_006724667.3:c.6016G>T	XP_006724730.1:p.Ala2006Ser
XM_017029601.2:c.6205G>T	XP_016885090.1:p.Ala2069Ser
XM_017029602.1:c.6175G>T	XP_016885091.1:p.Ala2059Ser
XM_017029603.1:c.6127G>T	XP_016885092.1:p.Ala2043Ser
XM_017029604.2:c.6094G>T	XP_016885093.1:p.Ala2032Ser
XM_017029605.1:c.6091G>T	XP_016885094.1:p.Ala2031Ser
XM_017029606.2:c.6064G>T	XP_016885095.1:p.Ala2022Ser
XM_017029607.2:c.6061G>T	XP_016885096.1:p.Ala2021Ser
XM_017029608.2:c.6013G>T	XP_016885097.1:p.Ala2005Ser
XM_017029609.1:c.5977G>T	XP_016885098.1:p.Ala1993Ser
XM_017029610.1:c.5974G>T	XP_016885099.1:p.Ala1992Ser
XM_017029611.1:c.5929G>T	XP_016885100.1:p.Ala1977Ser
XR_001755700.2:n.6594G>T
NM_138270.4:c.6181G>T	NP_612114.2:p.Ala2061Ser
NM_000489.6:c.6295G>T MANE Select	NP_000480.3:p.Ala2099Ser
NM_138270.5:c.6181G>T	NP_612114.2:p.Ala2061Ser