Canonical Allele Identifier: CA413704313

Gene: ATRX

Linked Data

• dbSNP Id: rs2147649197
• MyVariant Identifiers: chrX:g.76763971A>T (hg19) ; chrX:g.77508493A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508493A>T , CM000685.2:g.77508493A>T	GRCh38
NC_000023.10:g.76763971A>T , CM000685.1:g.76763971A>T	GRCh37
NC_000023.9:g.76650627A>T	NCBI36
NG_008838.2:g.282729T>A
NG_008838.3:g.282777T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7337T>A MANE Select	ENSP00000362441.4:p.Met2446Lys
ENST00000675732.1:c.2435T>A	ENSP00000502598.1:p.Met812Lys
ENST00000373344.9:c.7337T>A	ENSP00000362441.4:p.Met2446Lys
ENST00000395603.7:c.7223T>A	ENSP00000378967.3:p.Met2408Lys
ENST00000480283.5:c.*6965T>A	ENSP00000480196.1:n.*6965T>A
ENST00000623706.3:n.5657T>A
ENST00000624766.1:n.568T>A
NM_000489.4:c.7337T>A	NP_000480.3:p.Met2446Lys
NM_138270.3:c.7223T>A	NP_612114.2:p.Met2408Lys
XM_005262153.3:c.7334T>A	XP_005262210.2:p.Met2445Lys
XM_005262154.3:c.7250T>A	XP_005262211.2:p.Met2417Lys
XM_005262155.3:c.7220T>A	XP_005262212.2:p.Met2407Lys
XM_005262156.3:c.7172T>A	XP_005262213.2:p.Met2391Lys
XM_005262157.3:c.7133T>A	XP_005262214.2:p.Met2378Lys
XM_006724666.2:c.7220T>A	XP_006724729.1:p.Met2407Lys
XM_006724667.2:c.7058T>A	XP_006724730.1:p.Met2353Lys
XR_938400.1:n.8929T>A
NM_000489.5:c.7337T>A	NP_000480.3:p.Met2446Lys
XM_005262153.5:c.7334T>A	XP_005262210.2:p.Met2445Lys
XM_005262154.5:c.7250T>A	XP_005262211.2:p.Met2417Lys
XM_005262155.4:c.7220T>A	XP_005262212.2:p.Met2407Lys
XM_005262156.4:c.7172T>A	XP_005262213.2:p.Met2391Lys
XM_005262157.5:c.7133T>A	XP_005262214.2:p.Met2378Lys
XM_006724666.4:c.7220T>A	XP_006724729.1:p.Met2407Lys
XM_006724667.3:c.7058T>A	XP_006724730.1:p.Met2353Lys
XM_017029601.2:c.7247T>A	XP_016885090.1:p.Met2416Lys
XM_017029602.1:c.7217T>A	XP_016885091.1:p.Met2406Lys
XM_017029603.1:c.7169T>A	XP_016885092.1:p.Met2390Lys
XM_017029604.2:c.7136T>A	XP_016885093.1:p.Met2379Lys
XM_017029605.1:c.7133T>A	XP_016885094.1:p.Met2378Lys
XM_017029606.2:c.7106T>A	XP_016885095.1:p.Met2369Lys
XM_017029607.2:c.7103T>A	XP_016885096.1:p.Met2368Lys
XM_017029608.2:c.7055T>A	XP_016885097.1:p.Met2352Lys
XM_017029609.1:c.7019T>A	XP_016885098.1:p.Met2340Lys
XM_017029610.1:c.7016T>A	XP_016885099.1:p.Met2339Lys
XM_017029611.1:c.6971T>A	XP_016885100.1:p.Met2324Lys
XR_001755700.2:n.7636T>A
NM_138270.4:c.7223T>A	NP_612114.2:p.Met2408Lys
NM_000489.6:c.7337T>A MANE Select	NP_000480.3:p.Met2446Lys
NM_138270.5:c.7223T>A	NP_612114.2:p.Met2408Lys