Canonical Allele Identifier: CA413708918

Gene: ATRX

Linked Data

• dbSNP Id: rs2148440180
• gnomAD v4: X-77652329-C-T
• MyVariant Identifiers: chrX:g.76907819C>T (hg19) ; chrX:g.77652329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77652329C>T , CM000685.2:g.77652329C>T	GRCh38
NC_000023.10:g.76907819C>T , CM000685.1:g.76907819C>T	GRCh37
NC_000023.9:g.76794475C>T	NCBI36
NG_008838.2:g.138893G>A
NG_008838.3:g.138941G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.4342G>A MANE Select	ENSP00000362441.4:p.Glu1448Lys
ENST00000373344.9:c.4342G>A	ENSP00000362441.4:p.Glu1448Lys
ENST00000395603.7:c.4228G>A	ENSP00000378967.3:p.Glu1410Lys
ENST00000480283.5:c.*3970G>A	ENSP00000480196.1:n.*3970G>A
NM_000489.4:c.4342G>A	NP_000480.3:p.Glu1448Lys
NM_138270.3:c.4228G>A	NP_612114.2:p.Glu1410Lys
XM_005262153.3:c.4339G>A	XP_005262210.2:p.Glu1447Lys
XM_005262154.3:c.4255G>A	XP_005262211.2:p.Glu1419Lys
XM_005262155.3:c.4225G>A	XP_005262212.2:p.Glu1409Lys
XM_005262156.3:c.4177G>A	XP_005262213.2:p.Glu1393Lys
XM_005262157.3:c.4138G>A	XP_005262214.2:p.Glu1380Lys
XM_006724666.2:c.4225G>A	XP_006724729.1:p.Glu1409Lys
XM_006724667.2:c.4063G>A	XP_006724730.1:p.Glu1355Lys
XM_006724668.2:c.4342G>A	XP_006724731.1:p.Glu1448Lys
XR_938400.1:n.4610G>A
NM_000489.5:c.4342G>A	NP_000480.3:p.Glu1448Lys
XM_005262153.5:c.4339G>A	XP_005262210.2:p.Glu1447Lys
XM_005262154.5:c.4255G>A	XP_005262211.2:p.Glu1419Lys
XM_005262155.4:c.4225G>A	XP_005262212.2:p.Glu1409Lys
XM_005262156.4:c.4177G>A	XP_005262213.2:p.Glu1393Lys
XM_005262157.5:c.4138G>A	XP_005262214.2:p.Glu1380Lys
XM_006724666.4:c.4225G>A	XP_006724729.1:p.Glu1409Lys
XM_006724667.3:c.4063G>A	XP_006724730.1:p.Glu1355Lys
XM_006724668.3:c.4342G>A	XP_006724731.1:p.Glu1448Lys
XM_017029601.2:c.4252G>A	XP_016885090.1:p.Glu1418Lys
XM_017029602.1:c.4222G>A	XP_016885091.1:p.Glu1408Lys
XM_017029603.1:c.4174G>A	XP_016885092.1:p.Glu1392Lys
XM_017029604.2:c.4141G>A	XP_016885093.1:p.Glu1381Lys
XM_017029605.1:c.4138G>A	XP_016885094.1:p.Glu1380Lys
XM_017029606.2:c.4111G>A	XP_016885095.1:p.Glu1371Lys
XM_017029607.2:c.4108G>A	XP_016885096.1:p.Glu1370Lys
XM_017029608.2:c.4060G>A	XP_016885097.1:p.Glu1354Lys
XM_017029609.1:c.4024G>A	XP_016885098.1:p.Glu1342Lys
XM_017029610.1:c.4021G>A	XP_016885099.1:p.Glu1341Lys
XM_017029611.1:c.3976G>A	XP_016885100.1:p.Glu1326Lys
XR_001755700.2:n.4567G>A
NM_138270.4:c.4228G>A	NP_612114.2:p.Glu1410Lys
NM_000489.6:c.4342G>A MANE Select	NP_000480.3:p.Glu1448Lys
NM_138270.5:c.4228G>A	NP_612114.2:p.Glu1410Lys