Canonical Allele Identifier: CA413703497

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763857G>A (hg19) ; chrX:g.77508379G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508379G>A , CM000685.2:g.77508379G>A	GRCh38
NC_000023.10:g.76763857G>A , CM000685.1:g.76763857G>A	GRCh37
NC_000023.9:g.76650513G>A	NCBI36
NG_008838.2:g.282843C>T
NG_008838.3:g.282891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7451C>T MANE Select	ENSP00000362441.4:p.Pro2484Leu
ENST00000675732.1:c.2549C>T	ENSP00000502598.1:p.Pro850Leu
ENST00000373344.9:c.7451C>T	ENSP00000362441.4:p.Pro2484Leu
ENST00000395603.7:c.7337C>T	ENSP00000378967.3:p.Pro2446Leu
ENST00000480283.5:c.*7079C>T	ENSP00000480196.1:n.*7079C>T
ENST00000623706.3:n.5771C>T
NM_000489.4:c.7451C>T	NP_000480.3:p.Pro2484Leu
NM_138270.3:c.7337C>T	NP_612114.2:p.Pro2446Leu
XM_005262153.3:c.7448C>T	XP_005262210.2:p.Pro2483Leu
XM_005262154.3:c.7364C>T	XP_005262211.2:p.Pro2455Leu
XM_005262155.3:c.7334C>T	XP_005262212.2:p.Pro2445Leu
XM_005262156.3:c.7286C>T	XP_005262213.2:p.Pro2429Leu
XM_005262157.3:c.7247C>T	XP_005262214.2:p.Pro2416Leu
XM_006724666.2:c.7334C>T	XP_006724729.1:p.Pro2445Leu
XM_006724667.2:c.7172C>T	XP_006724730.1:p.Pro2391Leu
XR_938400.1:n.9043C>T
NM_000489.5:c.7451C>T	NP_000480.3:p.Pro2484Leu
XM_005262153.5:c.7448C>T	XP_005262210.2:p.Pro2483Leu
XM_005262154.5:c.7364C>T	XP_005262211.2:p.Pro2455Leu
XM_005262155.4:c.7334C>T	XP_005262212.2:p.Pro2445Leu
XM_005262156.4:c.7286C>T	XP_005262213.2:p.Pro2429Leu
XM_005262157.5:c.7247C>T	XP_005262214.2:p.Pro2416Leu
XM_006724666.4:c.7334C>T	XP_006724729.1:p.Pro2445Leu
XM_006724667.3:c.7172C>T	XP_006724730.1:p.Pro2391Leu
XM_017029601.2:c.7361C>T	XP_016885090.1:p.Pro2454Leu
XM_017029602.1:c.7331C>T	XP_016885091.1:p.Pro2444Leu
XM_017029603.1:c.7283C>T	XP_016885092.1:p.Pro2428Leu
XM_017029604.2:c.7250C>T	XP_016885093.1:p.Pro2417Leu
XM_017029605.1:c.7247C>T	XP_016885094.1:p.Pro2416Leu
XM_017029606.2:c.7220C>T	XP_016885095.1:p.Pro2407Leu
XM_017029607.2:c.7217C>T	XP_016885096.1:p.Pro2406Leu
XM_017029608.2:c.7169C>T	XP_016885097.1:p.Pro2390Leu
XM_017029609.1:c.7133C>T	XP_016885098.1:p.Pro2378Leu
XM_017029610.1:c.7130C>T	XP_016885099.1:p.Pro2377Leu
XM_017029611.1:c.7085C>T	XP_016885100.1:p.Pro2362Leu
XR_001755700.2:n.7750C>T
NM_138270.4:c.7337C>T	NP_612114.2:p.Pro2446Leu
NM_000489.6:c.7451C>T MANE Select	NP_000480.3:p.Pro2484Leu
NM_138270.5:c.7337C>T	NP_612114.2:p.Pro2446Leu