Canonical Allele Identifier: CA413703729

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77633341T>C , CM000685.2:g.77633341T>C	GRCh38
NC_000023.10:g.76888829T>C , CM000685.1:g.76888829T>C	GRCh37
NC_000023.9:g.76775485T>C	NCBI36
NG_008838.2:g.157881A>G
NG_008838.3:g.157929A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.5000A>G MANE Select	NP_000480.3:p.Tyr1667Cys
ENST00000373344.11:c.5000A>G MANE Select	ENSP00000362441.4:p.Tyr1667Cys
NM_000489.4:c.5000A>G	NP_000480.3:p.Tyr1667Cys
NM_000489.5:c.5000A>G	NP_000480.3:p.Tyr1667Cys
NM_138270.3:c.4886A>G	NP_612114.2:p.Tyr1629Cys
NM_138270.4:c.4886A>G	NP_612114.2:p.Tyr1629Cys
NM_138270.5:c.4886A>G	NP_612114.2:p.Tyr1629Cys
ENST00000373344.9:c.5000A>G	ENSP00000362441.4:p.Tyr1667Cys
ENST00000395603.7:c.4886A>G	ENSP00000378967.3:p.Tyr1629Cys
ENST00000480283.5:c.*4628A>G	ENSP00000480196.1:n.*4628A>G
ENST00000624403.1:n.344A>G
ENST00000675732.1:c.98A>G	ENSP00000502598.1:p.Tyr33Cys
ENST00000675908.1:n.735A>G
XM_005262153.3:c.4997A>G	XP_005262210.2:p.Tyr1666Cys
XM_005262153.5:c.4997A>G	XP_005262210.2:p.Tyr1666Cys
XM_005262154.3:c.4913A>G	XP_005262211.2:p.Tyr1638Cys
XM_005262154.5:c.4913A>G	XP_005262211.2:p.Tyr1638Cys
XM_005262155.3:c.4883A>G	XP_005262212.2:p.Tyr1628Cys
XM_005262155.4:c.4883A>G	XP_005262212.2:p.Tyr1628Cys
XM_005262156.3:c.4835A>G	XP_005262213.2:p.Tyr1612Cys
XM_005262156.4:c.4835A>G	XP_005262213.2:p.Tyr1612Cys
XM_005262157.3:c.4796A>G	XP_005262214.2:p.Tyr1599Cys
XM_005262157.5:c.4796A>G	XP_005262214.2:p.Tyr1599Cys
XM_006724666.2:c.4883A>G	XP_006724729.1:p.Tyr1628Cys
XM_006724666.4:c.4883A>G	XP_006724729.1:p.Tyr1628Cys
XM_006724667.2:c.4721A>G	XP_006724730.1:p.Tyr1574Cys
XM_006724667.3:c.4721A>G	XP_006724730.1:p.Tyr1574Cys
XM_006724668.2:c.5000A>G	XP_006724731.1:p.Tyr1667Cys
XM_006724668.3:c.5000A>G	XP_006724731.1:p.Tyr1667Cys
XM_017029601.2:c.4910A>G	XP_016885090.1:p.Tyr1637Cys
XM_017029602.1:c.4880A>G	XP_016885091.1:p.Tyr1627Cys
XM_017029603.1:c.4832A>G	XP_016885092.1:p.Tyr1611Cys
XM_017029604.2:c.4799A>G	XP_016885093.1:p.Tyr1600Cys
XM_017029605.1:c.4796A>G	XP_016885094.1:p.Tyr1599Cys
XM_017029606.2:c.4769A>G	XP_016885095.1:p.Tyr1590Cys
XM_017029607.2:c.4766A>G	XP_016885096.1:p.Tyr1589Cys
XM_017029608.2:c.4718A>G	XP_016885097.1:p.Tyr1573Cys
XM_017029609.1:c.4682A>G	XP_016885098.1:p.Tyr1561Cys
XM_017029610.1:c.4679A>G	XP_016885099.1:p.Tyr1560Cys
XM_017029611.1:c.4634A>G	XP_016885100.1:p.Tyr1545Cys
XR_001755700.2:n.5225A>G
XR_938400.1:n.5268A>G