Canonical Allele Identifier: CA413704193

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763954G>A (hg19) ; chrX:g.77508476G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508476G>A , CM000685.2:g.77508476G>A	GRCh38
NC_000023.10:g.76763954G>A , CM000685.1:g.76763954G>A	GRCh37
NC_000023.9:g.76650610G>A	NCBI36
NG_008838.2:g.282746C>T
NG_008838.3:g.282794C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7354C>T MANE Select	ENSP00000362441.4:p.Gln2452Ter
ENST00000675732.1:c.2452C>T	ENSP00000502598.1:p.Gln818Ter
ENST00000373344.9:c.7354C>T	ENSP00000362441.4:p.Gln2452Ter
ENST00000395603.7:c.7240C>T	ENSP00000378967.3:p.Gln2414Ter
ENST00000480283.5:c.*6982C>T	ENSP00000480196.1:n.*6982C>T
ENST00000623706.3:n.5674C>T
NM_000489.4:c.7354C>T	NP_000480.3:p.Gln2452Ter
NM_138270.3:c.7240C>T	NP_612114.2:p.Gln2414Ter
XM_005262153.3:c.7351C>T	XP_005262210.2:p.Gln2451Ter
XM_005262154.3:c.7267C>T	XP_005262211.2:p.Gln2423Ter
XM_005262155.3:c.7237C>T	XP_005262212.2:p.Gln2413Ter
XM_005262156.3:c.7189C>T	XP_005262213.2:p.Gln2397Ter
XM_005262157.3:c.7150C>T	XP_005262214.2:p.Gln2384Ter
XM_006724666.2:c.7237C>T	XP_006724729.1:p.Gln2413Ter
XM_006724667.2:c.7075C>T	XP_006724730.1:p.Gln2359Ter
XR_938400.1:n.8946C>T
NM_000489.5:c.7354C>T	NP_000480.3:p.Gln2452Ter
XM_005262153.5:c.7351C>T	XP_005262210.2:p.Gln2451Ter
XM_005262154.5:c.7267C>T	XP_005262211.2:p.Gln2423Ter
XM_005262155.4:c.7237C>T	XP_005262212.2:p.Gln2413Ter
XM_005262156.4:c.7189C>T	XP_005262213.2:p.Gln2397Ter
XM_005262157.5:c.7150C>T	XP_005262214.2:p.Gln2384Ter
XM_006724666.4:c.7237C>T	XP_006724729.1:p.Gln2413Ter
XM_006724667.3:c.7075C>T	XP_006724730.1:p.Gln2359Ter
XM_017029601.2:c.7264C>T	XP_016885090.1:p.Gln2422Ter
XM_017029602.1:c.7234C>T	XP_016885091.1:p.Gln2412Ter
XM_017029603.1:c.7186C>T	XP_016885092.1:p.Gln2396Ter
XM_017029604.2:c.7153C>T	XP_016885093.1:p.Gln2385Ter
XM_017029605.1:c.7150C>T	XP_016885094.1:p.Gln2384Ter
XM_017029606.2:c.7123C>T	XP_016885095.1:p.Gln2375Ter
XM_017029607.2:c.7120C>T	XP_016885096.1:p.Gln2374Ter
XM_017029608.2:c.7072C>T	XP_016885097.1:p.Gln2358Ter
XM_017029609.1:c.7036C>T	XP_016885098.1:p.Gln2346Ter
XM_017029610.1:c.7033C>T	XP_016885099.1:p.Gln2345Ter
XM_017029611.1:c.6988C>T	XP_016885100.1:p.Gln2330Ter
XR_001755700.2:n.7653C>T
NM_138270.4:c.7240C>T	NP_612114.2:p.Gln2414Ter
NM_000489.6:c.7354C>T MANE Select	NP_000480.3:p.Gln2452Ter
NM_138270.5:c.7240C>T	NP_612114.2:p.Gln2414Ter