Canonical Allele Identifier: CA413704573

Gene: ATRX

Linked Data

• dbSNP Id: rs2147650328
• MyVariant Identifiers: chrX:g.76764001A>G (hg19) ; chrX:g.77508523A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508523A>G , CM000685.2:g.77508523A>G	GRCh38
NC_000023.10:g.76764001A>G , CM000685.1:g.76764001A>G	GRCh37
NC_000023.9:g.76650657A>G	NCBI36
NG_008838.2:g.282699T>C
NG_008838.3:g.282747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7307T>C MANE Select	ENSP00000362441.4:p.Leu2436Pro
ENST00000675732.1:c.2405T>C	ENSP00000502598.1:p.Leu802Pro
ENST00000373344.9:c.7307T>C	ENSP00000362441.4:p.Leu2436Pro
ENST00000395603.7:c.7193T>C	ENSP00000378967.3:p.Leu2398Pro
ENST00000480283.5:c.*6935T>C	ENSP00000480196.1:n.*6935T>C
ENST00000623706.3:n.5627T>C
ENST00000624766.1:n.538T>C
NM_000489.4:c.7307T>C	NP_000480.3:p.Leu2436Pro
NM_138270.3:c.7193T>C	NP_612114.2:p.Leu2398Pro
XM_005262153.3:c.7304T>C	XP_005262210.2:p.Leu2435Pro
XM_005262154.3:c.7220T>C	XP_005262211.2:p.Leu2407Pro
XM_005262155.3:c.7190T>C	XP_005262212.2:p.Leu2397Pro
XM_005262156.3:c.7142T>C	XP_005262213.2:p.Leu2381Pro
XM_005262157.3:c.7103T>C	XP_005262214.2:p.Leu2368Pro
XM_006724666.2:c.7190T>C	XP_006724729.1:p.Leu2397Pro
XM_006724667.2:c.7028T>C	XP_006724730.1:p.Leu2343Pro
XR_938400.1:n.8899T>C
NM_000489.5:c.7307T>C	NP_000480.3:p.Leu2436Pro
XM_005262153.5:c.7304T>C	XP_005262210.2:p.Leu2435Pro
XM_005262154.5:c.7220T>C	XP_005262211.2:p.Leu2407Pro
XM_005262155.4:c.7190T>C	XP_005262212.2:p.Leu2397Pro
XM_005262156.4:c.7142T>C	XP_005262213.2:p.Leu2381Pro
XM_005262157.5:c.7103T>C	XP_005262214.2:p.Leu2368Pro
XM_006724666.4:c.7190T>C	XP_006724729.1:p.Leu2397Pro
XM_006724667.3:c.7028T>C	XP_006724730.1:p.Leu2343Pro
XM_017029601.2:c.7217T>C	XP_016885090.1:p.Leu2406Pro
XM_017029602.1:c.7187T>C	XP_016885091.1:p.Leu2396Pro
XM_017029603.1:c.7139T>C	XP_016885092.1:p.Leu2380Pro
XM_017029604.2:c.7106T>C	XP_016885093.1:p.Leu2369Pro
XM_017029605.1:c.7103T>C	XP_016885094.1:p.Leu2368Pro
XM_017029606.2:c.7076T>C	XP_016885095.1:p.Leu2359Pro
XM_017029607.2:c.7073T>C	XP_016885096.1:p.Leu2358Pro
XM_017029608.2:c.7025T>C	XP_016885097.1:p.Leu2342Pro
XM_017029609.1:c.6989T>C	XP_016885098.1:p.Leu2330Pro
XM_017029610.1:c.6986T>C	XP_016885099.1:p.Leu2329Pro
XM_017029611.1:c.6941T>C	XP_016885100.1:p.Leu2314Pro
XR_001755700.2:n.7606T>C
NM_138270.4:c.7193T>C	NP_612114.2:p.Leu2398Pro
NM_000489.6:c.7307T>C MANE Select	NP_000480.3:p.Leu2436Pro
NM_138270.5:c.7193T>C	NP_612114.2:p.Leu2398Pro