Canonical Allele Identifier: CA2694140366

Gene: ATRX

Linked Data

• gnomAD v4: X-77574227-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77574227C>A , CM000685.2:g.77574227C>A	GRCh38
NC_000023.10:g.76829692C>A , CM000685.1:g.76829692C>A	GRCh37
NC_000023.9:g.76716348C>A	NCBI36
NG_008838.2:g.216995G>T
NG_008838.3:g.217043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.6326+23G>T MANE Select	ENSP00000362441.4:n.6326+23G>T
ENST00000675732.1:c.1424+23G>T	ENSP00000502598.1:n.1424+23G>T
ENST00000373344.9:c.6326+23G>T	ENSP00000362441.4:n.6326+23G>T
ENST00000395603.7:c.6212+23G>T	ENSP00000378967.3:n.6212+23G>T
ENST00000480283.5:c.*5954+23G>T	ENSP00000480196.1:n.*5954+23G>T
ENST00000623706.3:n.3396+23G>T
NM_000489.4:c.6326+23G>T	NP_000480.3:n.6326+23G>T
NM_138270.3:c.6212+23G>T	NP_612114.2:n.6212+23G>T
XM_005262153.3:c.6323+23G>T	XP_005262210.2:n.6323+23G>T
XM_005262154.3:c.6239+23G>T	XP_005262211.2:n.6239+23G>T
XM_005262155.3:c.6209+23G>T	XP_005262212.2:n.6209+23G>T
XM_005262156.3:c.6161+23G>T	XP_005262213.2:n.6161+23G>T
XM_005262157.3:c.6122+23G>T	XP_005262214.2:n.6122+23G>T
XM_006724666.2:c.6209+23G>T	XP_006724729.1:n.6209+23G>T
XM_006724667.2:c.6047+23G>T	XP_006724730.1:n.6047+23G>T
XR_938400.1:n.6668+23G>T
NM_000489.5:c.6326+23G>T	NP_000480.3:n.6326+23G>T
XM_005262153.5:c.6323+23G>T	XP_005262210.2:n.6323+23G>T
XM_005262154.5:c.6239+23G>T	XP_005262211.2:n.6239+23G>T
XM_005262155.4:c.6209+23G>T	XP_005262212.2:n.6209+23G>T
XM_005262156.4:c.6161+23G>T	XP_005262213.2:n.6161+23G>T
XM_005262157.5:c.6122+23G>T	XP_005262214.2:n.6122+23G>T
XM_006724666.4:c.6209+23G>T	XP_006724729.1:n.6209+23G>T
XM_006724667.3:c.6047+23G>T	XP_006724730.1:n.6047+23G>T
XM_017029601.2:c.6236+23G>T	XP_016885090.1:n.6236+23G>T
XM_017029602.1:c.6206+23G>T	XP_016885091.1:n.6206+23G>T
XM_017029603.1:c.6158+23G>T	XP_016885092.1:n.6158+23G>T
XM_017029604.2:c.6125+23G>T	XP_016885093.1:n.6125+23G>T
XM_017029605.1:c.6122+23G>T	XP_016885094.1:n.6122+23G>T
XM_017029606.2:c.6095+23G>T	XP_016885095.1:n.6095+23G>T
XM_017029607.2:c.6092+23G>T	XP_016885096.1:n.6092+23G>T
XM_017029608.2:c.6044+23G>T	XP_016885097.1:n.6044+23G>T
XM_017029609.1:c.6008+23G>T	XP_016885098.1:n.6008+23G>T
XM_017029610.1:c.6005+23G>T	XP_016885099.1:n.6005+23G>T
XM_017029611.1:c.5960+23G>T	XP_016885100.1:n.5960+23G>T
XR_001755700.2:n.6625+23G>T
NM_138270.4:c.6212+23G>T	NP_612114.2:n.6212+23G>T
NM_000489.6:c.6326+23G>T MANE Select	NP_000480.3:n.6326+23G>T
NM_138270.5:c.6212+23G>T	NP_612114.2:n.6212+23G>T