Canonical Allele Identifier: CA413703674

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763878G>A (hg19) ; chrX:g.77508400G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508400G>A , CM000685.2:g.77508400G>A	GRCh38
NC_000023.10:g.76763878G>A , CM000685.1:g.76763878G>A	GRCh37
NC_000023.9:g.76650534G>A	NCBI36
NG_008838.2:g.282822C>T
NG_008838.3:g.282870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7430C>T MANE Select	ENSP00000362441.4:p.Pro2477Leu
ENST00000675732.1:c.2528C>T	ENSP00000502598.1:p.Pro843Leu
ENST00000373344.9:c.7430C>T	ENSP00000362441.4:p.Pro2477Leu
ENST00000395603.7:c.7316C>T	ENSP00000378967.3:p.Pro2439Leu
ENST00000480283.5:c.*7058C>T	ENSP00000480196.1:n.*7058C>T
ENST00000623706.3:n.5750C>T
NM_000489.4:c.7430C>T	NP_000480.3:p.Pro2477Leu
NM_138270.3:c.7316C>T	NP_612114.2:p.Pro2439Leu
XM_005262153.3:c.7427C>T	XP_005262210.2:p.Pro2476Leu
XM_005262154.3:c.7343C>T	XP_005262211.2:p.Pro2448Leu
XM_005262155.3:c.7313C>T	XP_005262212.2:p.Pro2438Leu
XM_005262156.3:c.7265C>T	XP_005262213.2:p.Pro2422Leu
XM_005262157.3:c.7226C>T	XP_005262214.2:p.Pro2409Leu
XM_006724666.2:c.7313C>T	XP_006724729.1:p.Pro2438Leu
XM_006724667.2:c.7151C>T	XP_006724730.1:p.Pro2384Leu
XR_938400.1:n.9022C>T
NM_000489.5:c.7430C>T	NP_000480.3:p.Pro2477Leu
XM_005262153.5:c.7427C>T	XP_005262210.2:p.Pro2476Leu
XM_005262154.5:c.7343C>T	XP_005262211.2:p.Pro2448Leu
XM_005262155.4:c.7313C>T	XP_005262212.2:p.Pro2438Leu
XM_005262156.4:c.7265C>T	XP_005262213.2:p.Pro2422Leu
XM_005262157.5:c.7226C>T	XP_005262214.2:p.Pro2409Leu
XM_006724666.4:c.7313C>T	XP_006724729.1:p.Pro2438Leu
XM_006724667.3:c.7151C>T	XP_006724730.1:p.Pro2384Leu
XM_017029601.2:c.7340C>T	XP_016885090.1:p.Pro2447Leu
XM_017029602.1:c.7310C>T	XP_016885091.1:p.Pro2437Leu
XM_017029603.1:c.7262C>T	XP_016885092.1:p.Pro2421Leu
XM_017029604.2:c.7229C>T	XP_016885093.1:p.Pro2410Leu
XM_017029605.1:c.7226C>T	XP_016885094.1:p.Pro2409Leu
XM_017029606.2:c.7199C>T	XP_016885095.1:p.Pro2400Leu
XM_017029607.2:c.7196C>T	XP_016885096.1:p.Pro2399Leu
XM_017029608.2:c.7148C>T	XP_016885097.1:p.Pro2383Leu
XM_017029609.1:c.7112C>T	XP_016885098.1:p.Pro2371Leu
XM_017029610.1:c.7109C>T	XP_016885099.1:p.Pro2370Leu
XM_017029611.1:c.7064C>T	XP_016885100.1:p.Pro2355Leu
XR_001755700.2:n.7729C>T
NM_138270.4:c.7316C>T	NP_612114.2:p.Pro2439Leu
NM_000489.6:c.7430C>T MANE Select	NP_000480.3:p.Pro2477Leu
NM_138270.5:c.7316C>T	NP_612114.2:p.Pro2439Leu