Canonical Allele Identifier: CA10457413

Gene: ATRX

Linked Data

• dbSNP Id: rs375582600
• ExAC: X:76776235 C / A
• gnomAD v2: X-76776235-C-A
• gnomAD v3: X-77520757-C-A
• gnomAD v4: X-77520757-C-A
• MyVariant Identifiers: chrX:g.76776235C>A (hg19) ; chrX:g.77520757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77520757C>A , CM000685.2:g.77520757C>A	GRCh38
NC_000023.10:g.76776235C>A , CM000685.1:g.76776235C>A	GRCh37
NC_000023.9:g.76662891C>A	NCBI36
NG_008838.2:g.270465G>T
NG_008838.3:g.270513G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373344.11:c.7200+31G>T MANE Select	ENSP00000362441.4:n.7200+31G>T
ENST00000675732.1:c.2298+31G>T	ENSP00000502598.1:n.2298+31G>T
ENST00000373344.9:c.7200+31G>T	ENSP00000362441.4:n.7200+31G>T
ENST00000395603.7:c.7086+31G>T	ENSP00000378967.3:n.7086+31G>T
ENST00000480283.5:c.*6828+31G>T	ENSP00000480196.1:n.*6828+31G>T
ENST00000623706.3:n.5520+31G>T
ENST00000624766.1:n.431+31G>T
NM_000489.4:c.7200+31G>T	NP_000480.3:n.7200+31G>T
NM_138270.3:c.7086+31G>T	NP_612114.2:n.7086+31G>T
XM_005262153.3:c.7197+31G>T	XP_005262210.2:n.7197+31G>T
XM_005262154.3:c.7113+31G>T	XP_005262211.2:n.7113+31G>T
XM_005262155.3:c.7083+31G>T	XP_005262212.2:n.7083+31G>T
XM_005262156.3:c.7035+31G>T	XP_005262213.2:n.7035+31G>T
XM_005262157.3:c.6996+31G>T	XP_005262214.2:n.6996+31G>T
XM_006724666.2:c.7083+31G>T	XP_006724729.1:n.7083+31G>T
XM_006724667.2:c.6921+31G>T	XP_006724730.1:n.6921+31G>T
XR_938400.1:n.8792+31G>T
NM_000489.5:c.7200+31G>T	NP_000480.3:n.7200+31G>T
XM_005262153.5:c.7197+31G>T	XP_005262210.2:n.7197+31G>T
XM_005262154.5:c.7113+31G>T	XP_005262211.2:n.7113+31G>T
XM_005262155.4:c.7083+31G>T	XP_005262212.2:n.7083+31G>T
XM_005262156.4:c.7035+31G>T	XP_005262213.2:n.7035+31G>T
XM_005262157.5:c.6996+31G>T	XP_005262214.2:n.6996+31G>T
XM_006724666.4:c.7083+31G>T	XP_006724729.1:n.7083+31G>T
XM_006724667.3:c.6921+31G>T	XP_006724730.1:n.6921+31G>T
XM_017029601.2:c.7110+31G>T	XP_016885090.1:n.7110+31G>T
XM_017029602.1:c.7080+31G>T	XP_016885091.1:n.7080+31G>T
XM_017029603.1:c.7032+31G>T	XP_016885092.1:n.7032+31G>T
XM_017029604.2:c.6999+31G>T	XP_016885093.1:n.6999+31G>T
XM_017029605.1:c.6996+31G>T	XP_016885094.1:n.6996+31G>T
XM_017029606.2:c.6969+31G>T	XP_016885095.1:n.6969+31G>T
XM_017029607.2:c.6966+31G>T	XP_016885096.1:n.6966+31G>T
XM_017029608.2:c.6918+31G>T	XP_016885097.1:n.6918+31G>T
XM_017029609.1:c.6882+31G>T	XP_016885098.1:n.6882+31G>T
XM_017029610.1:c.6879+31G>T	XP_016885099.1:n.6879+31G>T
XM_017029611.1:c.6834+31G>T	XP_016885100.1:n.6834+31G>T
XR_001755700.2:n.7499+31G>T
NM_138270.4:c.7086+31G>T	NP_612114.2:n.7086+31G>T
NM_000489.6:c.7200+31G>T MANE Select	NP_000480.3:n.7200+31G>T
NM_138270.5:c.7086+31G>T	NP_612114.2:n.7086+31G>T