Canonical Allele Identifier: CA10457387

Gene: ATRX

Linked Data

• dbSNP Id: rs781975871
• ExAC: X:76763909 T / A
• MyVariant Identifiers: chrX:g.76763909T>A (hg19) ; chrX:g.77508431T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508431T>A , CM000685.2:g.77508431T>A	GRCh38
NC_000023.10:g.76763909T>A , CM000685.1:g.76763909T>A	GRCh37
NC_000023.9:g.76650565T>A	NCBI36
NG_008838.2:g.282791A>T
NG_008838.3:g.282839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7399A>T MANE Select	ENSP00000362441.4:p.Met2467Leu
ENST00000675732.1:c.2497A>T	ENSP00000502598.1:p.Met833Leu
ENST00000373344.9:c.7399A>T	ENSP00000362441.4:p.Met2467Leu
ENST00000395603.7:c.7285A>T	ENSP00000378967.3:p.Met2429Leu
ENST00000480283.5:c.*7027A>T	ENSP00000480196.1:n.*7027A>T
ENST00000623706.3:n.5719A>T
NM_000489.4:c.7399A>T	NP_000480.3:p.Met2467Leu
NM_138270.3:c.7285A>T	NP_612114.2:p.Met2429Leu
XM_005262153.3:c.7396A>T	XP_005262210.2:p.Met2466Leu
XM_005262154.3:c.7312A>T	XP_005262211.2:p.Met2438Leu
XM_005262155.3:c.7282A>T	XP_005262212.2:p.Met2428Leu
XM_005262156.3:c.7234A>T	XP_005262213.2:p.Met2412Leu
XM_005262157.3:c.7195A>T	XP_005262214.2:p.Met2399Leu
XM_006724666.2:c.7282A>T	XP_006724729.1:p.Met2428Leu
XM_006724667.2:c.7120A>T	XP_006724730.1:p.Met2374Leu
XR_938400.1:n.8991A>T
NM_000489.5:c.7399A>T	NP_000480.3:p.Met2467Leu
XM_005262153.5:c.7396A>T	XP_005262210.2:p.Met2466Leu
XM_005262154.5:c.7312A>T	XP_005262211.2:p.Met2438Leu
XM_005262155.4:c.7282A>T	XP_005262212.2:p.Met2428Leu
XM_005262156.4:c.7234A>T	XP_005262213.2:p.Met2412Leu
XM_005262157.5:c.7195A>T	XP_005262214.2:p.Met2399Leu
XM_006724666.4:c.7282A>T	XP_006724729.1:p.Met2428Leu
XM_006724667.3:c.7120A>T	XP_006724730.1:p.Met2374Leu
XM_017029601.2:c.7309A>T	XP_016885090.1:p.Met2437Leu
XM_017029602.1:c.7279A>T	XP_016885091.1:p.Met2427Leu
XM_017029603.1:c.7231A>T	XP_016885092.1:p.Met2411Leu
XM_017029604.2:c.7198A>T	XP_016885093.1:p.Met2400Leu
XM_017029605.1:c.7195A>T	XP_016885094.1:p.Met2399Leu
XM_017029606.2:c.7168A>T	XP_016885095.1:p.Met2390Leu
XM_017029607.2:c.7165A>T	XP_016885096.1:p.Met2389Leu
XM_017029608.2:c.7117A>T	XP_016885097.1:p.Met2373Leu
XM_017029609.1:c.7081A>T	XP_016885098.1:p.Met2361Leu
XM_017029610.1:c.7078A>T	XP_016885099.1:p.Met2360Leu
XM_017029611.1:c.7033A>T	XP_016885100.1:p.Met2345Leu
XR_001755700.2:n.7698A>T
NM_138270.4:c.7285A>T	NP_612114.2:p.Met2429Leu
NM_000489.6:c.7399A>T MANE Select	NP_000480.3:p.Met2467Leu
NM_138270.5:c.7285A>T	NP_612114.2:p.Met2429Leu