Canonical Allele Identifier: CA413707162

Gene: ATRX

Linked Data

• gnomAD v4: X-77520844-G-A
• MyVariant Identifiers: chrX:g.76776322G>A (hg19) ; chrX:g.77520844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520844G>A , CM000685.2:g.77520844G>A	GRCh38
NC_000023.10:g.76776322G>A , CM000685.1:g.76776322G>A	GRCh37
NC_000023.9:g.76662978G>A	NCBI36
NG_008838.2:g.270378C>T
NG_008838.3:g.270426C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7144C>T MANE Select	ENSP00000362441.4:p.Leu2382Phe
ENST00000675732.1:c.2242C>T	ENSP00000502598.1:p.Leu748Phe
ENST00000373344.9:c.7144C>T	ENSP00000362441.4:p.Leu2382Phe
ENST00000395603.7:c.7030C>T	ENSP00000378967.3:p.Leu2344Phe
ENST00000480283.5:c.*6772C>T	ENSP00000480196.1:n.*6772C>T
ENST00000623706.3:n.5464C>T
ENST00000624766.1:n.375C>T
NM_000489.4:c.7144C>T	NP_000480.3:p.Leu2382Phe
NM_138270.3:c.7030C>T	NP_612114.2:p.Leu2344Phe
XM_005262153.3:c.7141C>T	XP_005262210.2:p.Leu2381Phe
XM_005262154.3:c.7057C>T	XP_005262211.2:p.Leu2353Phe
XM_005262155.3:c.7027C>T	XP_005262212.2:p.Leu2343Phe
XM_005262156.3:c.6979C>T	XP_005262213.2:p.Leu2327Phe
XM_005262157.3:c.6940C>T	XP_005262214.2:p.Leu2314Phe
XM_006724666.2:c.7027C>T	XP_006724729.1:p.Leu2343Phe
XM_006724667.2:c.6865C>T	XP_006724730.1:p.Leu2289Phe
XR_938400.1:n.8736C>T
NM_000489.5:c.7144C>T	NP_000480.3:p.Leu2382Phe
XM_005262153.5:c.7141C>T	XP_005262210.2:p.Leu2381Phe
XM_005262154.5:c.7057C>T	XP_005262211.2:p.Leu2353Phe
XM_005262155.4:c.7027C>T	XP_005262212.2:p.Leu2343Phe
XM_005262156.4:c.6979C>T	XP_005262213.2:p.Leu2327Phe
XM_005262157.5:c.6940C>T	XP_005262214.2:p.Leu2314Phe
XM_006724666.4:c.7027C>T	XP_006724729.1:p.Leu2343Phe
XM_006724667.3:c.6865C>T	XP_006724730.1:p.Leu2289Phe
XM_017029601.2:c.7054C>T	XP_016885090.1:p.Leu2352Phe
XM_017029602.1:c.7024C>T	XP_016885091.1:p.Leu2342Phe
XM_017029603.1:c.6976C>T	XP_016885092.1:p.Leu2326Phe
XM_017029604.2:c.6943C>T	XP_016885093.1:p.Leu2315Phe
XM_017029605.1:c.6940C>T	XP_016885094.1:p.Leu2314Phe
XM_017029606.2:c.6913C>T	XP_016885095.1:p.Leu2305Phe
XM_017029607.2:c.6910C>T	XP_016885096.1:p.Leu2304Phe
XM_017029608.2:c.6862C>T	XP_016885097.1:p.Leu2288Phe
XM_017029609.1:c.6826C>T	XP_016885098.1:p.Leu2276Phe
XM_017029610.1:c.6823C>T	XP_016885099.1:p.Leu2275Phe
XM_017029611.1:c.6778C>T	XP_016885100.1:p.Leu2260Phe
XR_001755700.2:n.7443C>T
NM_138270.4:c.7030C>T	NP_612114.2:p.Leu2344Phe
NM_000489.6:c.7144C>T MANE Select	NP_000480.3:p.Leu2382Phe
NM_138270.5:c.7030C>T	NP_612114.2:p.Leu2344Phe