Canonical Allele Identifier: CA413704094

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76763940C>G (hg19) ; chrX:g.77508462C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508462C>G , CM000685.2:g.77508462C>G	GRCh38
NC_000023.10:g.76763940C>G , CM000685.1:g.76763940C>G	GRCh37
NC_000023.9:g.76650596C>G	NCBI36
NG_008838.2:g.282760G>C
NG_008838.3:g.282808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7368G>C MANE Select	ENSP00000362441.4:p.Met2456Ile
ENST00000675732.1:c.2466G>C	ENSP00000502598.1:p.Met822Ile
ENST00000373344.9:c.7368G>C	ENSP00000362441.4:p.Met2456Ile
ENST00000395603.7:c.7254G>C	ENSP00000378967.3:p.Met2418Ile
ENST00000480283.5:c.*6996G>C	ENSP00000480196.1:n.*6996G>C
ENST00000623706.3:n.5688G>C
NM_000489.4:c.7368G>C	NP_000480.3:p.Met2456Ile
NM_138270.3:c.7254G>C	NP_612114.2:p.Met2418Ile
XM_005262153.3:c.7365G>C	XP_005262210.2:p.Met2455Ile
XM_005262154.3:c.7281G>C	XP_005262211.2:p.Met2427Ile
XM_005262155.3:c.7251G>C	XP_005262212.2:p.Met2417Ile
XM_005262156.3:c.7203G>C	XP_005262213.2:p.Met2401Ile
XM_005262157.3:c.7164G>C	XP_005262214.2:p.Met2388Ile
XM_006724666.2:c.7251G>C	XP_006724729.1:p.Met2417Ile
XM_006724667.2:c.7089G>C	XP_006724730.1:p.Met2363Ile
XR_938400.1:n.8960G>C
NM_000489.5:c.7368G>C	NP_000480.3:p.Met2456Ile
XM_005262153.5:c.7365G>C	XP_005262210.2:p.Met2455Ile
XM_005262154.5:c.7281G>C	XP_005262211.2:p.Met2427Ile
XM_005262155.4:c.7251G>C	XP_005262212.2:p.Met2417Ile
XM_005262156.4:c.7203G>C	XP_005262213.2:p.Met2401Ile
XM_005262157.5:c.7164G>C	XP_005262214.2:p.Met2388Ile
XM_006724666.4:c.7251G>C	XP_006724729.1:p.Met2417Ile
XM_006724667.3:c.7089G>C	XP_006724730.1:p.Met2363Ile
XM_017029601.2:c.7278G>C	XP_016885090.1:p.Met2426Ile
XM_017029602.1:c.7248G>C	XP_016885091.1:p.Met2416Ile
XM_017029603.1:c.7200G>C	XP_016885092.1:p.Met2400Ile
XM_017029604.2:c.7167G>C	XP_016885093.1:p.Met2389Ile
XM_017029605.1:c.7164G>C	XP_016885094.1:p.Met2388Ile
XM_017029606.2:c.7137G>C	XP_016885095.1:p.Met2379Ile
XM_017029607.2:c.7134G>C	XP_016885096.1:p.Met2378Ile
XM_017029608.2:c.7086G>C	XP_016885097.1:p.Met2362Ile
XM_017029609.1:c.7050G>C	XP_016885098.1:p.Met2350Ile
XM_017029610.1:c.7047G>C	XP_016885099.1:p.Met2349Ile
XM_017029611.1:c.7002G>C	XP_016885100.1:p.Met2334Ile
XR_001755700.2:n.7667G>C
NM_138270.4:c.7254G>C	NP_612114.2:p.Met2418Ile
NM_000489.6:c.7368G>C MANE Select	NP_000480.3:p.Met2456Ile
NM_138270.5:c.7254G>C	NP_612114.2:p.Met2418Ile