Canonical Allele Identifier: CA413704104

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648215
• gnomAD v4: X-77508463-A-T
• MyVariant Identifiers: chrX:g.76763941A>T (hg19) ; chrX:g.77508463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508463A>T , CM000685.2:g.77508463A>T	GRCh38
NC_000023.10:g.76763941A>T , CM000685.1:g.76763941A>T	GRCh37
NC_000023.9:g.76650597A>T	NCBI36
NG_008838.2:g.282759T>A
NG_008838.3:g.282807T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7367T>A MANE Select	ENSP00000362441.4:p.Met2456Lys
ENST00000675732.1:c.2465T>A	ENSP00000502598.1:p.Met822Lys
ENST00000373344.9:c.7367T>A	ENSP00000362441.4:p.Met2456Lys
ENST00000395603.7:c.7253T>A	ENSP00000378967.3:p.Met2418Lys
ENST00000480283.5:c.*6995T>A	ENSP00000480196.1:n.*6995T>A
ENST00000623706.3:n.5687T>A
NM_000489.4:c.7367T>A	NP_000480.3:p.Met2456Lys
NM_138270.3:c.7253T>A	NP_612114.2:p.Met2418Lys
XM_005262153.3:c.7364T>A	XP_005262210.2:p.Met2455Lys
XM_005262154.3:c.7280T>A	XP_005262211.2:p.Met2427Lys
XM_005262155.3:c.7250T>A	XP_005262212.2:p.Met2417Lys
XM_005262156.3:c.7202T>A	XP_005262213.2:p.Met2401Lys
XM_005262157.3:c.7163T>A	XP_005262214.2:p.Met2388Lys
XM_006724666.2:c.7250T>A	XP_006724729.1:p.Met2417Lys
XM_006724667.2:c.7088T>A	XP_006724730.1:p.Met2363Lys
XR_938400.1:n.8959T>A
NM_000489.5:c.7367T>A	NP_000480.3:p.Met2456Lys
XM_005262153.5:c.7364T>A	XP_005262210.2:p.Met2455Lys
XM_005262154.5:c.7280T>A	XP_005262211.2:p.Met2427Lys
XM_005262155.4:c.7250T>A	XP_005262212.2:p.Met2417Lys
XM_005262156.4:c.7202T>A	XP_005262213.2:p.Met2401Lys
XM_005262157.5:c.7163T>A	XP_005262214.2:p.Met2388Lys
XM_006724666.4:c.7250T>A	XP_006724729.1:p.Met2417Lys
XM_006724667.3:c.7088T>A	XP_006724730.1:p.Met2363Lys
XM_017029601.2:c.7277T>A	XP_016885090.1:p.Met2426Lys
XM_017029602.1:c.7247T>A	XP_016885091.1:p.Met2416Lys
XM_017029603.1:c.7199T>A	XP_016885092.1:p.Met2400Lys
XM_017029604.2:c.7166T>A	XP_016885093.1:p.Met2389Lys
XM_017029605.1:c.7163T>A	XP_016885094.1:p.Met2388Lys
XM_017029606.2:c.7136T>A	XP_016885095.1:p.Met2379Lys
XM_017029607.2:c.7133T>A	XP_016885096.1:p.Met2378Lys
XM_017029608.2:c.7085T>A	XP_016885097.1:p.Met2362Lys
XM_017029609.1:c.7049T>A	XP_016885098.1:p.Met2350Lys
XM_017029610.1:c.7046T>A	XP_016885099.1:p.Met2349Lys
XM_017029611.1:c.7001T>A	XP_016885100.1:p.Met2334Lys
XR_001755700.2:n.7666T>A
NM_138270.4:c.7253T>A	NP_612114.2:p.Met2418Lys
NM_000489.6:c.7367T>A MANE Select	NP_000480.3:p.Met2456Lys
NM_138270.5:c.7253T>A	NP_612114.2:p.Met2418Lys