Canonical Allele Identifier: CA413707404

Gene: ATRX

Linked Data

• COSMIC: COSM1125389 ; COSM1125390
• MyVariant Identifiers: chrX:g.76776376G>T (hg19) ; chrX:g.77520898G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520898G>T , CM000685.2:g.77520898G>T	GRCh38
NC_000023.10:g.76776376G>T , CM000685.1:g.76776376G>T	GRCh37
NC_000023.9:g.76663032G>T	NCBI36
NG_008838.2:g.270324C>A
NG_008838.3:g.270372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7090C>A MANE Select	ENSP00000362441.4:p.Leu2364Ile
ENST00000675732.1:c.2188C>A	ENSP00000502598.1:p.Leu730Ile
ENST00000373344.9:c.7090C>A	ENSP00000362441.4:p.Leu2364Ile
ENST00000395603.7:c.6976C>A	ENSP00000378967.3:p.Leu2326Ile
ENST00000480283.5:c.*6718C>A	ENSP00000480196.1:n.*6718C>A
ENST00000623706.3:n.5410C>A
ENST00000624766.1:n.321C>A
NM_000489.4:c.7090C>A	NP_000480.3:p.Leu2364Ile
NM_138270.3:c.6976C>A	NP_612114.2:p.Leu2326Ile
XM_005262153.3:c.7087C>A	XP_005262210.2:p.Leu2363Ile
XM_005262154.3:c.7003C>A	XP_005262211.2:p.Leu2335Ile
XM_005262155.3:c.6973C>A	XP_005262212.2:p.Leu2325Ile
XM_005262156.3:c.6925C>A	XP_005262213.2:p.Leu2309Ile
XM_005262157.3:c.6886C>A	XP_005262214.2:p.Leu2296Ile
XM_006724666.2:c.6973C>A	XP_006724729.1:p.Leu2325Ile
XM_006724667.2:c.6811C>A	XP_006724730.1:p.Leu2271Ile
XR_938400.1:n.8682C>A
NM_000489.5:c.7090C>A	NP_000480.3:p.Leu2364Ile
XM_005262153.5:c.7087C>A	XP_005262210.2:p.Leu2363Ile
XM_005262154.5:c.7003C>A	XP_005262211.2:p.Leu2335Ile
XM_005262155.4:c.6973C>A	XP_005262212.2:p.Leu2325Ile
XM_005262156.4:c.6925C>A	XP_005262213.2:p.Leu2309Ile
XM_005262157.5:c.6886C>A	XP_005262214.2:p.Leu2296Ile
XM_006724666.4:c.6973C>A	XP_006724729.1:p.Leu2325Ile
XM_006724667.3:c.6811C>A	XP_006724730.1:p.Leu2271Ile
XM_017029601.2:c.7000C>A	XP_016885090.1:p.Leu2334Ile
XM_017029602.1:c.6970C>A	XP_016885091.1:p.Leu2324Ile
XM_017029603.1:c.6922C>A	XP_016885092.1:p.Leu2308Ile
XM_017029604.2:c.6889C>A	XP_016885093.1:p.Leu2297Ile
XM_017029605.1:c.6886C>A	XP_016885094.1:p.Leu2296Ile
XM_017029606.2:c.6859C>A	XP_016885095.1:p.Leu2287Ile
XM_017029607.2:c.6856C>A	XP_016885096.1:p.Leu2286Ile
XM_017029608.2:c.6808C>A	XP_016885097.1:p.Leu2270Ile
XM_017029609.1:c.6772C>A	XP_016885098.1:p.Leu2258Ile
XM_017029610.1:c.6769C>A	XP_016885099.1:p.Leu2257Ile
XM_017029611.1:c.6724C>A	XP_016885100.1:p.Leu2242Ile
XR_001755700.2:n.7389C>A
NM_138270.4:c.6976C>A	NP_612114.2:p.Leu2326Ile
NM_000489.6:c.7090C>A MANE Select	NP_000480.3:p.Leu2364Ile
NM_138270.5:c.6976C>A	NP_612114.2:p.Leu2326Ile