Canonical Allele Identifier: CA413704636

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650660
• gnomAD v4: X-77508532-A-G
• MyVariant Identifiers: chrX:g.76764010A>G (hg19) ; chrX:g.77508532A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508532A>G , CM000685.2:g.77508532A>G	GRCh38
NC_000023.10:g.76764010A>G , CM000685.1:g.76764010A>G	GRCh37
NC_000023.9:g.76650666A>G	NCBI36
NG_008838.2:g.282690T>C
NG_008838.3:g.282738T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7298T>C MANE Select	ENSP00000362441.4:p.Leu2433Pro
ENST00000675732.1:c.2396T>C	ENSP00000502598.1:p.Leu799Pro
ENST00000373344.9:c.7298T>C	ENSP00000362441.4:p.Leu2433Pro
ENST00000395603.7:c.7184T>C	ENSP00000378967.3:p.Leu2395Pro
ENST00000480283.5:c.*6926T>C	ENSP00000480196.1:n.*6926T>C
ENST00000623706.3:n.5618T>C
ENST00000624766.1:n.529T>C
NM_000489.4:c.7298T>C	NP_000480.3:p.Leu2433Pro
NM_138270.3:c.7184T>C	NP_612114.2:p.Leu2395Pro
XM_005262153.3:c.7295T>C	XP_005262210.2:p.Leu2432Pro
XM_005262154.3:c.7211T>C	XP_005262211.2:p.Leu2404Pro
XM_005262155.3:c.7181T>C	XP_005262212.2:p.Leu2394Pro
XM_005262156.3:c.7133T>C	XP_005262213.2:p.Leu2378Pro
XM_005262157.3:c.7094T>C	XP_005262214.2:p.Leu2365Pro
XM_006724666.2:c.7181T>C	XP_006724729.1:p.Leu2394Pro
XM_006724667.2:c.7019T>C	XP_006724730.1:p.Leu2340Pro
XR_938400.1:n.8890T>C
NM_000489.5:c.7298T>C	NP_000480.3:p.Leu2433Pro
XM_005262153.5:c.7295T>C	XP_005262210.2:p.Leu2432Pro
XM_005262154.5:c.7211T>C	XP_005262211.2:p.Leu2404Pro
XM_005262155.4:c.7181T>C	XP_005262212.2:p.Leu2394Pro
XM_005262156.4:c.7133T>C	XP_005262213.2:p.Leu2378Pro
XM_005262157.5:c.7094T>C	XP_005262214.2:p.Leu2365Pro
XM_006724666.4:c.7181T>C	XP_006724729.1:p.Leu2394Pro
XM_006724667.3:c.7019T>C	XP_006724730.1:p.Leu2340Pro
XM_017029601.2:c.7208T>C	XP_016885090.1:p.Leu2403Pro
XM_017029602.1:c.7178T>C	XP_016885091.1:p.Leu2393Pro
XM_017029603.1:c.7130T>C	XP_016885092.1:p.Leu2377Pro
XM_017029604.2:c.7097T>C	XP_016885093.1:p.Leu2366Pro
XM_017029605.1:c.7094T>C	XP_016885094.1:p.Leu2365Pro
XM_017029606.2:c.7067T>C	XP_016885095.1:p.Leu2356Pro
XM_017029607.2:c.7064T>C	XP_016885096.1:p.Leu2355Pro
XM_017029608.2:c.7016T>C	XP_016885097.1:p.Leu2339Pro
XM_017029609.1:c.6980T>C	XP_016885098.1:p.Leu2327Pro
XM_017029610.1:c.6977T>C	XP_016885099.1:p.Leu2326Pro
XM_017029611.1:c.6932T>C	XP_016885100.1:p.Leu2311Pro
XR_001755700.2:n.7597T>C
NM_138270.4:c.7184T>C	NP_612114.2:p.Leu2395Pro
NM_000489.6:c.7298T>C MANE Select	NP_000480.3:p.Leu2433Pro
NM_138270.5:c.7184T>C	NP_612114.2:p.Leu2395Pro