Canonical Allele Identifier: CA413702298

Gene: ATRX

Linked Data

• dbSNP Id: rs1197182374
• gnomAD v4: X-77589848-G-T
• MyVariant Identifiers: chrX:g.76845318G>T (hg19) ; chrX:g.77589848G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77589848G>T , CM000685.2:g.77589848G>T	GRCh38
NC_000023.10:g.76845318G>T , CM000685.1:g.76845318G>T	GRCh37
NC_000023.9:g.76731974G>T	NCBI36
NG_008838.2:g.201374C>A
NG_008838.3:g.201422C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6203C>A MANE Select	ENSP00000362441.4:p.Pro2068His
ENST00000636868.1:n.25C>A
ENST00000675732.1:c.1301C>A	ENSP00000502598.1:p.Pro434His
ENST00000373344.9:c.6203C>A	ENSP00000362441.4:p.Pro2068His
ENST00000395603.7:c.6089C>A	ENSP00000378967.3:p.Pro2030His
ENST00000480283.5:c.*5831C>A	ENSP00000480196.1:n.*5831C>A
ENST00000623316.1:c.687C>A
ENST00000623706.3:n.3273C>A
NM_000489.4:c.6203C>A	NP_000480.3:p.Pro2068His
NM_138270.3:c.6089C>A	NP_612114.2:p.Pro2030His
XM_005262153.3:c.6200C>A	XP_005262210.2:p.Pro2067His
XM_005262154.3:c.6116C>A	XP_005262211.2:p.Pro2039His
XM_005262155.3:c.6086C>A	XP_005262212.2:p.Pro2029His
XM_005262156.3:c.6038C>A	XP_005262213.2:p.Pro2013His
XM_005262157.3:c.5999C>A	XP_005262214.2:p.Pro2000His
XM_006724666.2:c.6086C>A	XP_006724729.1:p.Pro2029His
XM_006724667.2:c.5924C>A	XP_006724730.1:p.Pro1975His
XR_938400.1:n.6545C>A
NM_000489.5:c.6203C>A	NP_000480.3:p.Pro2068His
XM_005262153.5:c.6200C>A	XP_005262210.2:p.Pro2067His
XM_005262154.5:c.6116C>A	XP_005262211.2:p.Pro2039His
XM_005262155.4:c.6086C>A	XP_005262212.2:p.Pro2029His
XM_005262156.4:c.6038C>A	XP_005262213.2:p.Pro2013His
XM_005262157.5:c.5999C>A	XP_005262214.2:p.Pro2000His
XM_006724666.4:c.6086C>A	XP_006724729.1:p.Pro2029His
XM_006724667.3:c.5924C>A	XP_006724730.1:p.Pro1975His
XM_017029601.2:c.6113C>A	XP_016885090.1:p.Pro2038His
XM_017029602.1:c.6083C>A	XP_016885091.1:p.Pro2028His
XM_017029603.1:c.6035C>A	XP_016885092.1:p.Pro2012His
XM_017029604.2:c.6002C>A	XP_016885093.1:p.Pro2001His
XM_017029605.1:c.5999C>A	XP_016885094.1:p.Pro2000His
XM_017029606.2:c.5972C>A	XP_016885095.1:p.Pro1991His
XM_017029607.2:c.5969C>A	XP_016885096.1:p.Pro1990His
XM_017029608.2:c.5921C>A	XP_016885097.1:p.Pro1974His
XM_017029609.1:c.5885C>A	XP_016885098.1:p.Pro1962His
XM_017029610.1:c.5882C>A	XP_016885099.1:p.Pro1961His
XM_017029611.1:c.5837C>A	XP_016885100.1:p.Pro1946His
XR_001755700.2:n.6502C>A
NM_138270.4:c.6089C>A	NP_612114.2:p.Pro2030His
NM_000489.6:c.6203C>A MANE Select	NP_000480.3:p.Pro2068His
NM_138270.5:c.6089C>A	NP_612114.2:p.Pro2030His