Canonical Allele Identifier: CA413712422

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682823C>A , CM000685.2:g.77682823C>A	GRCh38
NC_000023.10:g.76938315C>A , CM000685.1:g.76938315C>A	GRCh37
NC_000023.9:g.76824971C>A	NCBI36
NG_008838.2:g.108399G>T
NG_008838.3:g.108447G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2433G>T MANE Select	NP_000480.3:p.Gln811His
ENST00000373344.11:c.2433G>T MANE Select	ENSP00000362441.4:p.Gln811His
NM_000489.4:c.2433G>T	NP_000480.3:p.Gln811His
NM_000489.5:c.2433G>T	NP_000480.3:p.Gln811His
NM_138270.3:c.2319G>T	NP_612114.2:p.Gln773His
NM_138270.4:c.2319G>T	NP_612114.2:p.Gln773His
NM_138270.5:c.2319G>T	NP_612114.2:p.Gln773His
ENST00000373344.9:c.2433G>T	ENSP00000362441.4:p.Gln811His
ENST00000395603.7:c.2319G>T	ENSP00000378967.3:p.Gln773His
ENST00000480283.5:c.*2061G>T	ENSP00000480196.1:n.*2061G>T
ENST00000624032.3:c.2346G>T	ENSP00000485253.1:p.Gln782His
ENST00000624166.3:c.2229G>T	ENSP00000485103.1:p.Gln743His
XM_005262153.3:c.2430G>T	XP_005262210.2:p.Gln810His
XM_005262153.5:c.2430G>T	XP_005262210.2:p.Gln810His
XM_005262154.3:c.2346G>T	XP_005262211.2:p.Gln782His
XM_005262154.5:c.2346G>T	XP_005262211.2:p.Gln782His
XM_005262155.3:c.2316G>T	XP_005262212.2:p.Gln772His
XM_005262155.4:c.2316G>T	XP_005262212.2:p.Gln772His
XM_005262156.3:c.2268G>T	XP_005262213.2:p.Gln756His
XM_005262156.4:c.2268G>T	XP_005262213.2:p.Gln756His
XM_005262157.3:c.2229G>T	XP_005262214.2:p.Gln743His
XM_005262157.5:c.2229G>T	XP_005262214.2:p.Gln743His
XM_006724666.2:c.2316G>T	XP_006724729.1:p.Gln772His
XM_006724666.4:c.2316G>T	XP_006724729.1:p.Gln772His
XM_006724667.2:c.2154G>T	XP_006724730.1:p.Gln718His
XM_006724667.3:c.2154G>T	XP_006724730.1:p.Gln718His
XM_006724668.2:c.2433G>T	XP_006724731.1:p.Gln811His
XM_006724668.3:c.2433G>T	XP_006724731.1:p.Gln811His
XM_017029601.2:c.2343G>T	XP_016885090.1:p.Gln781His
XM_017029602.1:c.2313G>T	XP_016885091.1:p.Gln771His
XM_017029603.1:c.2265G>T	XP_016885092.1:p.Gln755His
XM_017029604.2:c.2232G>T	XP_016885093.1:p.Gln744His
XM_017029605.1:c.2229G>T	XP_016885094.1:p.Gln743His
XM_017029606.2:c.2202G>T	XP_016885095.1:p.Gln734His
XM_017029607.2:c.2199G>T	XP_016885096.1:p.Gln733His
XM_017029608.2:c.2151G>T	XP_016885097.1:p.Gln717His
XM_017029609.1:c.2115G>T	XP_016885098.1:p.Gln705His
XM_017029610.1:c.2112G>T	XP_016885099.1:p.Gln704His
XM_017029611.1:c.2067G>T	XP_016885100.1:p.Gln689His
XR_001755700.2:n.2658G>T
XR_938400.1:n.2701G>T