Canonical Allele Identifier: CA10458214

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77683910G>C , CM000685.2:g.77683910G>C	GRCh38
NC_000023.10:g.76939402G>C , CM000685.1:g.76939402G>C	GRCh37
NC_000023.9:g.76826058G>C	NCBI36
NG_008838.2:g.107312C>G
NG_008838.3:g.107360C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.1346C>G MANE Select	NP_000480.3:p.Pro449Arg
ENST00000373344.11:c.1346C>G MANE Select	ENSP00000362441.4:p.Pro449Arg
NM_000489.4:c.1346C>G	NP_000480.3:p.Pro449Arg
NM_000489.5:c.1346C>G	NP_000480.3:p.Pro449Arg
NM_138270.3:c.1232C>G	NP_612114.2:p.Pro411Arg
NM_138270.4:c.1232C>G	NP_612114.2:p.Pro411Arg
NM_138270.5:c.1232C>G	NP_612114.2:p.Pro411Arg
ENST00000373344.9:c.1346C>G	ENSP00000362441.4:p.Pro449Arg
ENST00000395603.7:c.1232C>G	ENSP00000378967.3:p.Pro411Arg
ENST00000480283.5:c.*974C>G	ENSP00000480196.1:n.*974C>G
ENST00000623321.3:c.1181C>G	ENSP00000485127.1:p.Pro394Arg
ENST00000624032.3:c.1346C>G	ENSP00000485253.1:p.Pro449Arg
ENST00000624166.3:c.1229C>G	ENSP00000485103.1:p.Pro410Arg
XM_005262153.3:c.1343C>G	XP_005262210.2:p.Pro448Arg
XM_005262153.5:c.1343C>G	XP_005262210.2:p.Pro448Arg
XM_005262154.3:c.1346C>G	XP_005262211.2:p.Pro449Arg
XM_005262154.5:c.1346C>G	XP_005262211.2:p.Pro449Arg
XM_005262155.3:c.1229C>G	XP_005262212.2:p.Pro410Arg
XM_005262155.4:c.1229C>G	XP_005262212.2:p.Pro410Arg
XM_005262156.3:c.1181C>G	XP_005262213.2:p.Pro394Arg
XM_005262156.4:c.1181C>G	XP_005262213.2:p.Pro394Arg
XM_005262157.3:c.1229C>G	XP_005262214.2:p.Pro410Arg
XM_005262157.5:c.1229C>G	XP_005262214.2:p.Pro410Arg
XM_006724666.2:c.1229C>G	XP_006724729.1:p.Pro410Arg
XM_006724666.4:c.1229C>G	XP_006724729.1:p.Pro410Arg
XM_006724667.2:c.1067C>G	XP_006724730.1:p.Pro356Arg
XM_006724667.3:c.1067C>G	XP_006724730.1:p.Pro356Arg
XM_006724668.2:c.1346C>G	XP_006724731.1:p.Pro449Arg
XM_006724668.3:c.1346C>G	XP_006724731.1:p.Pro449Arg
XM_017029601.2:c.1343C>G	XP_016885090.1:p.Pro448Arg
XM_017029602.1:c.1226C>G	XP_016885091.1:p.Pro409Arg
XM_017029603.1:c.1178C>G	XP_016885092.1:p.Pro393Arg
XM_017029604.2:c.1232C>G	XP_016885093.1:p.Pro411Arg
XM_017029605.1:c.1229C>G	XP_016885094.1:p.Pro410Arg
XM_017029606.2:c.1115C>G	XP_016885095.1:p.Pro372Arg
XM_017029607.2:c.1112C>G	XP_016885096.1:p.Pro371Arg
XM_017029608.2:c.1064C>G	XP_016885097.1:p.Pro355Arg
XM_017029609.1:c.1115C>G	XP_016885098.1:p.Pro372Arg
XM_017029610.1:c.1112C>G	XP_016885099.1:p.Pro371Arg
XM_017029611.1:c.1067C>G	XP_016885100.1:p.Pro356Arg
XR_001755700.2:n.1571C>G
XR_938400.1:n.1614C>G