Canonical Allele Identifier: CA413700838

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76829719C>A (hg19) ; chrX:g.77574254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574254C>A , CM000685.2:g.77574254C>A	GRCh38
NC_000023.10:g.76829719C>A , CM000685.1:g.76829719C>A	GRCh37
NC_000023.9:g.76716375C>A	NCBI36
NG_008838.2:g.216968G>T
NG_008838.3:g.217016G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6322G>T MANE Select	ENSP00000362441.4:p.Val2108Leu
ENST00000675732.1:c.1420G>T	ENSP00000502598.1:p.Val474Leu
ENST00000373344.9:c.6322G>T	ENSP00000362441.4:p.Val2108Leu
ENST00000395603.7:c.6208G>T	ENSP00000378967.3:p.Val2070Leu
ENST00000480283.5:c.*5950G>T	ENSP00000480196.1:n.*5950G>T
ENST00000623706.3:n.3392G>T
NM_000489.4:c.6322G>T	NP_000480.3:p.Val2108Leu
NM_138270.3:c.6208G>T	NP_612114.2:p.Val2070Leu
XM_005262153.3:c.6319G>T	XP_005262210.2:p.Val2107Leu
XM_005262154.3:c.6235G>T	XP_005262211.2:p.Val2079Leu
XM_005262155.3:c.6205G>T	XP_005262212.2:p.Val2069Leu
XM_005262156.3:c.6157G>T	XP_005262213.2:p.Val2053Leu
XM_005262157.3:c.6118G>T	XP_005262214.2:p.Val2040Leu
XM_006724666.2:c.6205G>T	XP_006724729.1:p.Val2069Leu
XM_006724667.2:c.6043G>T	XP_006724730.1:p.Val2015Leu
XR_938400.1:n.6664G>T
NM_000489.5:c.6322G>T	NP_000480.3:p.Val2108Leu
XM_005262153.5:c.6319G>T	XP_005262210.2:p.Val2107Leu
XM_005262154.5:c.6235G>T	XP_005262211.2:p.Val2079Leu
XM_005262155.4:c.6205G>T	XP_005262212.2:p.Val2069Leu
XM_005262156.4:c.6157G>T	XP_005262213.2:p.Val2053Leu
XM_005262157.5:c.6118G>T	XP_005262214.2:p.Val2040Leu
XM_006724666.4:c.6205G>T	XP_006724729.1:p.Val2069Leu
XM_006724667.3:c.6043G>T	XP_006724730.1:p.Val2015Leu
XM_017029601.2:c.6232G>T	XP_016885090.1:p.Val2078Leu
XM_017029602.1:c.6202G>T	XP_016885091.1:p.Val2068Leu
XM_017029603.1:c.6154G>T	XP_016885092.1:p.Val2052Leu
XM_017029604.2:c.6121G>T	XP_016885093.1:p.Val2041Leu
XM_017029605.1:c.6118G>T	XP_016885094.1:p.Val2040Leu
XM_017029606.2:c.6091G>T	XP_016885095.1:p.Val2031Leu
XM_017029607.2:c.6088G>T	XP_016885096.1:p.Val2030Leu
XM_017029608.2:c.6040G>T	XP_016885097.1:p.Val2014Leu
XM_017029609.1:c.6004G>T	XP_016885098.1:p.Val2002Leu
XM_017029610.1:c.6001G>T	XP_016885099.1:p.Val2001Leu
XM_017029611.1:c.5956G>T	XP_016885100.1:p.Val1986Leu
XR_001755700.2:n.6621G>T
NM_138270.4:c.6208G>T	NP_612114.2:p.Val2070Leu
NM_000489.6:c.6322G>T MANE Select	NP_000480.3:p.Val2108Leu
NM_138270.5:c.6208G>T	NP_612114.2:p.Val2070Leu