Canonical Allele Identifier: CA413704335

Gene: ATRX

Linked Data

• ClinVar Variation Id: 1722012
• ClinVar RCV Id: RCV002295085
• MyVariant Identifiers: chrX:g.76763972T>G (hg19) ; chrX:g.77508494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508494T>G , CM000685.2:g.77508494T>G	GRCh38
NC_000023.10:g.76763972T>G , CM000685.1:g.76763972T>G	GRCh37
NC_000023.9:g.76650628T>G	NCBI36
NG_008838.2:g.282728A>C
NG_008838.3:g.282776A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7336A>C MANE Select	ENSP00000362441.4:p.Met2446Leu
ENST00000675732.1:c.2434A>C	ENSP00000502598.1:p.Met812Leu
ENST00000373344.9:c.7336A>C	ENSP00000362441.4:p.Met2446Leu
ENST00000395603.7:c.7222A>C	ENSP00000378967.3:p.Met2408Leu
ENST00000480283.5:c.*6964A>C	ENSP00000480196.1:n.*6964A>C
ENST00000623706.3:n.5656A>C
ENST00000624766.1:n.567A>C
NM_000489.4:c.7336A>C	NP_000480.3:p.Met2446Leu
NM_138270.3:c.7222A>C	NP_612114.2:p.Met2408Leu
XM_005262153.3:c.7333A>C	XP_005262210.2:p.Met2445Leu
XM_005262154.3:c.7249A>C	XP_005262211.2:p.Met2417Leu
XM_005262155.3:c.7219A>C	XP_005262212.2:p.Met2407Leu
XM_005262156.3:c.7171A>C	XP_005262213.2:p.Met2391Leu
XM_005262157.3:c.7132A>C	XP_005262214.2:p.Met2378Leu
XM_006724666.2:c.7219A>C	XP_006724729.1:p.Met2407Leu
XM_006724667.2:c.7057A>C	XP_006724730.1:p.Met2353Leu
XR_938400.1:n.8928A>C
NM_000489.5:c.7336A>C	NP_000480.3:p.Met2446Leu
XM_005262153.5:c.7333A>C	XP_005262210.2:p.Met2445Leu
XM_005262154.5:c.7249A>C	XP_005262211.2:p.Met2417Leu
XM_005262155.4:c.7219A>C	XP_005262212.2:p.Met2407Leu
XM_005262156.4:c.7171A>C	XP_005262213.2:p.Met2391Leu
XM_005262157.5:c.7132A>C	XP_005262214.2:p.Met2378Leu
XM_006724666.4:c.7219A>C	XP_006724729.1:p.Met2407Leu
XM_006724667.3:c.7057A>C	XP_006724730.1:p.Met2353Leu
XM_017029601.2:c.7246A>C	XP_016885090.1:p.Met2416Leu
XM_017029602.1:c.7216A>C	XP_016885091.1:p.Met2406Leu
XM_017029603.1:c.7168A>C	XP_016885092.1:p.Met2390Leu
XM_017029604.2:c.7135A>C	XP_016885093.1:p.Met2379Leu
XM_017029605.1:c.7132A>C	XP_016885094.1:p.Met2378Leu
XM_017029606.2:c.7105A>C	XP_016885095.1:p.Met2369Leu
XM_017029607.2:c.7102A>C	XP_016885096.1:p.Met2368Leu
XM_017029608.2:c.7054A>C	XP_016885097.1:p.Met2352Leu
XM_017029609.1:c.7018A>C	XP_016885098.1:p.Met2340Leu
XM_017029610.1:c.7015A>C	XP_016885099.1:p.Met2339Leu
XM_017029611.1:c.6970A>C	XP_016885100.1:p.Met2324Leu
XR_001755700.2:n.7635A>C
NM_138270.4:c.7222A>C	NP_612114.2:p.Met2408Leu
NM_000489.6:c.7336A>C MANE Select	NP_000480.3:p.Met2446Leu
NM_138270.5:c.7222A>C	NP_612114.2:p.Met2408Leu