Canonical Allele Identifier: CA413704110

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763942T>A (hg19) ; chrX:g.77508464T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508464T>A , CM000685.2:g.77508464T>A	GRCh38
NC_000023.10:g.76763942T>A , CM000685.1:g.76763942T>A	GRCh37
NC_000023.9:g.76650598T>A	NCBI36
NG_008838.2:g.282758A>T
NG_008838.3:g.282806A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7366A>T MANE Select	ENSP00000362441.4:p.Met2456Leu
ENST00000675732.1:c.2464A>T	ENSP00000502598.1:p.Met822Leu
ENST00000373344.9:c.7366A>T	ENSP00000362441.4:p.Met2456Leu
ENST00000395603.7:c.7252A>T	ENSP00000378967.3:p.Met2418Leu
ENST00000480283.5:c.*6994A>T	ENSP00000480196.1:n.*6994A>T
ENST00000623706.3:n.5686A>T
NM_000489.4:c.7366A>T	NP_000480.3:p.Met2456Leu
NM_138270.3:c.7252A>T	NP_612114.2:p.Met2418Leu
XM_005262153.3:c.7363A>T	XP_005262210.2:p.Met2455Leu
XM_005262154.3:c.7279A>T	XP_005262211.2:p.Met2427Leu
XM_005262155.3:c.7249A>T	XP_005262212.2:p.Met2417Leu
XM_005262156.3:c.7201A>T	XP_005262213.2:p.Met2401Leu
XM_005262157.3:c.7162A>T	XP_005262214.2:p.Met2388Leu
XM_006724666.2:c.7249A>T	XP_006724729.1:p.Met2417Leu
XM_006724667.2:c.7087A>T	XP_006724730.1:p.Met2363Leu
XR_938400.1:n.8958A>T
NM_000489.5:c.7366A>T	NP_000480.3:p.Met2456Leu
XM_005262153.5:c.7363A>T	XP_005262210.2:p.Met2455Leu
XM_005262154.5:c.7279A>T	XP_005262211.2:p.Met2427Leu
XM_005262155.4:c.7249A>T	XP_005262212.2:p.Met2417Leu
XM_005262156.4:c.7201A>T	XP_005262213.2:p.Met2401Leu
XM_005262157.5:c.7162A>T	XP_005262214.2:p.Met2388Leu
XM_006724666.4:c.7249A>T	XP_006724729.1:p.Met2417Leu
XM_006724667.3:c.7087A>T	XP_006724730.1:p.Met2363Leu
XM_017029601.2:c.7276A>T	XP_016885090.1:p.Met2426Leu
XM_017029602.1:c.7246A>T	XP_016885091.1:p.Met2416Leu
XM_017029603.1:c.7198A>T	XP_016885092.1:p.Met2400Leu
XM_017029604.2:c.7165A>T	XP_016885093.1:p.Met2389Leu
XM_017029605.1:c.7162A>T	XP_016885094.1:p.Met2388Leu
XM_017029606.2:c.7135A>T	XP_016885095.1:p.Met2379Leu
XM_017029607.2:c.7132A>T	XP_016885096.1:p.Met2378Leu
XM_017029608.2:c.7084A>T	XP_016885097.1:p.Met2362Leu
XM_017029609.1:c.7048A>T	XP_016885098.1:p.Met2350Leu
XM_017029610.1:c.7045A>T	XP_016885099.1:p.Met2349Leu
XM_017029611.1:c.7000A>T	XP_016885100.1:p.Met2334Leu
XR_001755700.2:n.7665A>T
NM_138270.4:c.7252A>T	NP_612114.2:p.Met2418Leu
NM_000489.6:c.7366A>T MANE Select	NP_000480.3:p.Met2456Leu
NM_138270.5:c.7252A>T	NP_612114.2:p.Met2418Leu