Canonical Allele Identifier: CA413704272

Gene: ATRX

Linked Data

• dbSNP Id: rs2147648942
• MyVariant Identifiers: chrX:g.76763965G>A (hg19) ; chrX:g.77508487G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508487G>A , CM000685.2:g.77508487G>A	GRCh38
NC_000023.10:g.76763965G>A , CM000685.1:g.76763965G>A	GRCh37
NC_000023.9:g.76650621G>A	NCBI36
NG_008838.2:g.282735C>T
NG_008838.3:g.282783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7343C>T MANE Select	ENSP00000362441.4:p.Pro2448Leu
ENST00000675732.1:c.2441C>T	ENSP00000502598.1:p.Pro814Leu
ENST00000373344.9:c.7343C>T	ENSP00000362441.4:p.Pro2448Leu
ENST00000395603.7:c.7229C>T	ENSP00000378967.3:p.Pro2410Leu
ENST00000480283.5:c.*6971C>T	ENSP00000480196.1:n.*6971C>T
ENST00000623706.3:n.5663C>T
ENST00000624766.1:n.574C>T
NM_000489.4:c.7343C>T	NP_000480.3:p.Pro2448Leu
NM_138270.3:c.7229C>T	NP_612114.2:p.Pro2410Leu
XM_005262153.3:c.7340C>T	XP_005262210.2:p.Pro2447Leu
XM_005262154.3:c.7256C>T	XP_005262211.2:p.Pro2419Leu
XM_005262155.3:c.7226C>T	XP_005262212.2:p.Pro2409Leu
XM_005262156.3:c.7178C>T	XP_005262213.2:p.Pro2393Leu
XM_005262157.3:c.7139C>T	XP_005262214.2:p.Pro2380Leu
XM_006724666.2:c.7226C>T	XP_006724729.1:p.Pro2409Leu
XM_006724667.2:c.7064C>T	XP_006724730.1:p.Pro2355Leu
XR_938400.1:n.8935C>T
NM_000489.5:c.7343C>T	NP_000480.3:p.Pro2448Leu
XM_005262153.5:c.7340C>T	XP_005262210.2:p.Pro2447Leu
XM_005262154.5:c.7256C>T	XP_005262211.2:p.Pro2419Leu
XM_005262155.4:c.7226C>T	XP_005262212.2:p.Pro2409Leu
XM_005262156.4:c.7178C>T	XP_005262213.2:p.Pro2393Leu
XM_005262157.5:c.7139C>T	XP_005262214.2:p.Pro2380Leu
XM_006724666.4:c.7226C>T	XP_006724729.1:p.Pro2409Leu
XM_006724667.3:c.7064C>T	XP_006724730.1:p.Pro2355Leu
XM_017029601.2:c.7253C>T	XP_016885090.1:p.Pro2418Leu
XM_017029602.1:c.7223C>T	XP_016885091.1:p.Pro2408Leu
XM_017029603.1:c.7175C>T	XP_016885092.1:p.Pro2392Leu
XM_017029604.2:c.7142C>T	XP_016885093.1:p.Pro2381Leu
XM_017029605.1:c.7139C>T	XP_016885094.1:p.Pro2380Leu
XM_017029606.2:c.7112C>T	XP_016885095.1:p.Pro2371Leu
XM_017029607.2:c.7109C>T	XP_016885096.1:p.Pro2370Leu
XM_017029608.2:c.7061C>T	XP_016885097.1:p.Pro2354Leu
XM_017029609.1:c.7025C>T	XP_016885098.1:p.Pro2342Leu
XM_017029610.1:c.7022C>T	XP_016885099.1:p.Pro2341Leu
XM_017029611.1:c.6977C>T	XP_016885100.1:p.Pro2326Leu
XR_001755700.2:n.7642C>T
NM_138270.4:c.7229C>T	NP_612114.2:p.Pro2410Leu
NM_000489.6:c.7343C>T MANE Select	NP_000480.3:p.Pro2448Leu
NM_138270.5:c.7229C>T	NP_612114.2:p.Pro2410Leu