Canonical Allele Identifier: CA413700818

Gene: ATRX

Linked Data

• gnomAD v4: X-77574249-C-T
• MyVariant Identifiers: chrX:g.76829714C>T (hg19) ; chrX:g.77574249C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574249C>T , CM000685.2:g.77574249C>T	GRCh38
NC_000023.10:g.76829714C>T , CM000685.1:g.76829714C>T	GRCh37
NC_000023.9:g.76716370C>T	NCBI36
NG_008838.2:g.216973G>A
NG_008838.3:g.217021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6326+1G>A MANE Select	ENSP00000362441.4:n.6326+1G>A
ENST00000675732.1:c.1424+1G>A	ENSP00000502598.1:n.1424+1G>A
ENST00000373344.9:c.6326+1G>A	ENSP00000362441.4:n.6326+1G>A
ENST00000395603.7:c.6212+1G>A	ENSP00000378967.3:n.6212+1G>A
ENST00000480283.5:c.*5954+1G>A	ENSP00000480196.1:n.*5954+1G>A
ENST00000623706.3:n.3396+1G>A
NM_000489.4:c.6326+1G>A	NP_000480.3:n.6326+1G>A
NM_138270.3:c.6212+1G>A	NP_612114.2:n.6212+1G>A
XM_005262153.3:c.6323+1G>A	XP_005262210.2:n.6323+1G>A
XM_005262154.3:c.6239+1G>A	XP_005262211.2:n.6239+1G>A
XM_005262155.3:c.6209+1G>A	XP_005262212.2:n.6209+1G>A
XM_005262156.3:c.6161+1G>A	XP_005262213.2:n.6161+1G>A
XM_005262157.3:c.6122+1G>A	XP_005262214.2:n.6122+1G>A
XM_006724666.2:c.6209+1G>A	XP_006724729.1:n.6209+1G>A
XM_006724667.2:c.6047+1G>A	XP_006724730.1:n.6047+1G>A
XR_938400.1:n.6668+1G>A
NM_000489.5:c.6326+1G>A	NP_000480.3:n.6326+1G>A
XM_005262153.5:c.6323+1G>A	XP_005262210.2:n.6323+1G>A
XM_005262154.5:c.6239+1G>A	XP_005262211.2:n.6239+1G>A
XM_005262155.4:c.6209+1G>A	XP_005262212.2:n.6209+1G>A
XM_005262156.4:c.6161+1G>A	XP_005262213.2:n.6161+1G>A
XM_005262157.5:c.6122+1G>A	XP_005262214.2:n.6122+1G>A
XM_006724666.4:c.6209+1G>A	XP_006724729.1:n.6209+1G>A
XM_006724667.3:c.6047+1G>A	XP_006724730.1:n.6047+1G>A
XM_017029601.2:c.6236+1G>A	XP_016885090.1:n.6236+1G>A
XM_017029602.1:c.6206+1G>A	XP_016885091.1:n.6206+1G>A
XM_017029603.1:c.6158+1G>A	XP_016885092.1:n.6158+1G>A
XM_017029604.2:c.6125+1G>A	XP_016885093.1:n.6125+1G>A
XM_017029605.1:c.6122+1G>A	XP_016885094.1:n.6122+1G>A
XM_017029606.2:c.6095+1G>A	XP_016885095.1:n.6095+1G>A
XM_017029607.2:c.6092+1G>A	XP_016885096.1:n.6092+1G>A
XM_017029608.2:c.6044+1G>A	XP_016885097.1:n.6044+1G>A
XM_017029609.1:c.6008+1G>A	XP_016885098.1:n.6008+1G>A
XM_017029610.1:c.6005+1G>A	XP_016885099.1:n.6005+1G>A
XM_017029611.1:c.5960+1G>A	XP_016885100.1:n.5960+1G>A
XR_001755700.2:n.6625+1G>A
NM_138270.4:c.6212+1G>A	NP_612114.2:n.6212+1G>A
NM_000489.6:c.6326+1G>A MANE Select	NP_000480.3:n.6326+1G>A
NM_138270.5:c.6212+1G>A	NP_612114.2:n.6212+1G>A