Canonical Allele Identifier: CA413703976

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763921C>A (hg19) ; chrX:g.77508443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508443C>A , CM000685.2:g.77508443C>A	GRCh38
NC_000023.10:g.76763921C>A , CM000685.1:g.76763921C>A	GRCh37
NC_000023.9:g.76650577C>A	NCBI36
NG_008838.2:g.282779G>T
NG_008838.3:g.282827G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7387G>T MANE Select	ENSP00000362441.4:p.Val2463Leu
ENST00000675732.1:c.2485G>T	ENSP00000502598.1:p.Val829Leu
ENST00000373344.9:c.7387G>T	ENSP00000362441.4:p.Val2463Leu
ENST00000395603.7:c.7273G>T	ENSP00000378967.3:p.Val2425Leu
ENST00000480283.5:c.*7015G>T	ENSP00000480196.1:n.*7015G>T
ENST00000623706.3:n.5707G>T
NM_000489.4:c.7387G>T	NP_000480.3:p.Val2463Leu
NM_138270.3:c.7273G>T	NP_612114.2:p.Val2425Leu
XM_005262153.3:c.7384G>T	XP_005262210.2:p.Val2462Leu
XM_005262154.3:c.7300G>T	XP_005262211.2:p.Val2434Leu
XM_005262155.3:c.7270G>T	XP_005262212.2:p.Val2424Leu
XM_005262156.3:c.7222G>T	XP_005262213.2:p.Val2408Leu
XM_005262157.3:c.7183G>T	XP_005262214.2:p.Val2395Leu
XM_006724666.2:c.7270G>T	XP_006724729.1:p.Val2424Leu
XM_006724667.2:c.7108G>T	XP_006724730.1:p.Val2370Leu
XR_938400.1:n.8979G>T
NM_000489.5:c.7387G>T	NP_000480.3:p.Val2463Leu
XM_005262153.5:c.7384G>T	XP_005262210.2:p.Val2462Leu
XM_005262154.5:c.7300G>T	XP_005262211.2:p.Val2434Leu
XM_005262155.4:c.7270G>T	XP_005262212.2:p.Val2424Leu
XM_005262156.4:c.7222G>T	XP_005262213.2:p.Val2408Leu
XM_005262157.5:c.7183G>T	XP_005262214.2:p.Val2395Leu
XM_006724666.4:c.7270G>T	XP_006724729.1:p.Val2424Leu
XM_006724667.3:c.7108G>T	XP_006724730.1:p.Val2370Leu
XM_017029601.2:c.7297G>T	XP_016885090.1:p.Val2433Leu
XM_017029602.1:c.7267G>T	XP_016885091.1:p.Val2423Leu
XM_017029603.1:c.7219G>T	XP_016885092.1:p.Val2407Leu
XM_017029604.2:c.7186G>T	XP_016885093.1:p.Val2396Leu
XM_017029605.1:c.7183G>T	XP_016885094.1:p.Val2395Leu
XM_017029606.2:c.7156G>T	XP_016885095.1:p.Val2386Leu
XM_017029607.2:c.7153G>T	XP_016885096.1:p.Val2385Leu
XM_017029608.2:c.7105G>T	XP_016885097.1:p.Val2369Leu
XM_017029609.1:c.7069G>T	XP_016885098.1:p.Val2357Leu
XM_017029610.1:c.7066G>T	XP_016885099.1:p.Val2356Leu
XM_017029611.1:c.7021G>T	XP_016885100.1:p.Val2341Leu
XR_001755700.2:n.7686G>T
NM_138270.4:c.7273G>T	NP_612114.2:p.Val2425Leu
NM_000489.6:c.7387G>T MANE Select	NP_000480.3:p.Val2463Leu
NM_138270.5:c.7273G>T	NP_612114.2:p.Val2425Leu