Canonical Allele Identifier: CA413704571

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76764001A>C (hg19) ; chrX:g.77508523A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508523A>C , CM000685.2:g.77508523A>C	GRCh38
NC_000023.10:g.76764001A>C , CM000685.1:g.76764001A>C	GRCh37
NC_000023.9:g.76650657A>C	NCBI36
NG_008838.2:g.282699T>G
NG_008838.3:g.282747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7307T>G MANE Select	ENSP00000362441.4:p.Leu2436Arg
ENST00000675732.1:c.2405T>G	ENSP00000502598.1:p.Leu802Arg
ENST00000373344.9:c.7307T>G	ENSP00000362441.4:p.Leu2436Arg
ENST00000395603.7:c.7193T>G	ENSP00000378967.3:p.Leu2398Arg
ENST00000480283.5:c.*6935T>G	ENSP00000480196.1:n.*6935T>G
ENST00000623706.3:n.5627T>G
ENST00000624766.1:n.538T>G
NM_000489.4:c.7307T>G	NP_000480.3:p.Leu2436Arg
NM_138270.3:c.7193T>G	NP_612114.2:p.Leu2398Arg
XM_005262153.3:c.7304T>G	XP_005262210.2:p.Leu2435Arg
XM_005262154.3:c.7220T>G	XP_005262211.2:p.Leu2407Arg
XM_005262155.3:c.7190T>G	XP_005262212.2:p.Leu2397Arg
XM_005262156.3:c.7142T>G	XP_005262213.2:p.Leu2381Arg
XM_005262157.3:c.7103T>G	XP_005262214.2:p.Leu2368Arg
XM_006724666.2:c.7190T>G	XP_006724729.1:p.Leu2397Arg
XM_006724667.2:c.7028T>G	XP_006724730.1:p.Leu2343Arg
XR_938400.1:n.8899T>G
NM_000489.5:c.7307T>G	NP_000480.3:p.Leu2436Arg
XM_005262153.5:c.7304T>G	XP_005262210.2:p.Leu2435Arg
XM_005262154.5:c.7220T>G	XP_005262211.2:p.Leu2407Arg
XM_005262155.4:c.7190T>G	XP_005262212.2:p.Leu2397Arg
XM_005262156.4:c.7142T>G	XP_005262213.2:p.Leu2381Arg
XM_005262157.5:c.7103T>G	XP_005262214.2:p.Leu2368Arg
XM_006724666.4:c.7190T>G	XP_006724729.1:p.Leu2397Arg
XM_006724667.3:c.7028T>G	XP_006724730.1:p.Leu2343Arg
XM_017029601.2:c.7217T>G	XP_016885090.1:p.Leu2406Arg
XM_017029602.1:c.7187T>G	XP_016885091.1:p.Leu2396Arg
XM_017029603.1:c.7139T>G	XP_016885092.1:p.Leu2380Arg
XM_017029604.2:c.7106T>G	XP_016885093.1:p.Leu2369Arg
XM_017029605.1:c.7103T>G	XP_016885094.1:p.Leu2368Arg
XM_017029606.2:c.7076T>G	XP_016885095.1:p.Leu2359Arg
XM_017029607.2:c.7073T>G	XP_016885096.1:p.Leu2358Arg
XM_017029608.2:c.7025T>G	XP_016885097.1:p.Leu2342Arg
XM_017029609.1:c.6989T>G	XP_016885098.1:p.Leu2330Arg
XM_017029610.1:c.6986T>G	XP_016885099.1:p.Leu2329Arg
XM_017029611.1:c.6941T>G	XP_016885100.1:p.Leu2314Arg
XR_001755700.2:n.7606T>G
NM_138270.4:c.7193T>G	NP_612114.2:p.Leu2398Arg
NM_000489.6:c.7307T>G MANE Select	NP_000480.3:p.Leu2436Arg
NM_138270.5:c.7193T>G	NP_612114.2:p.Leu2398Arg