Canonical Allele Identifier: CA413703790

Gene: ATRX

Linked Data

• gnomAD v4: X-77508415-A-G
• MyVariant Identifiers: chrX:g.76763893A>G (hg19) ; chrX:g.77508415A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77508415A>G , CM000685.2:g.77508415A>G	GRCh38
NC_000023.10:g.76763893A>G , CM000685.1:g.76763893A>G	GRCh37
NC_000023.9:g.76650549A>G	NCBI36
NG_008838.2:g.282807T>C
NG_008838.3:g.282855T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.7415T>C MANE Select	ENSP00000362441.4:p.Leu2472Ser
ENST00000675732.1:c.2513T>C	ENSP00000502598.1:p.Leu838Ser
ENST00000373344.9:c.7415T>C	ENSP00000362441.4:p.Leu2472Ser
ENST00000395603.7:c.7301T>C	ENSP00000378967.3:p.Leu2434Ser
ENST00000480283.5:c.*7043T>C	ENSP00000480196.1:n.*7043T>C
ENST00000623706.3:n.5735T>C
NM_000489.4:c.7415T>C	NP_000480.3:p.Leu2472Ser
NM_138270.3:c.7301T>C	NP_612114.2:p.Leu2434Ser
XM_005262153.3:c.7412T>C	XP_005262210.2:p.Leu2471Ser
XM_005262154.3:c.7328T>C	XP_005262211.2:p.Leu2443Ser
XM_005262155.3:c.7298T>C	XP_005262212.2:p.Leu2433Ser
XM_005262156.3:c.7250T>C	XP_005262213.2:p.Leu2417Ser
XM_005262157.3:c.7211T>C	XP_005262214.2:p.Leu2404Ser
XM_006724666.2:c.7298T>C	XP_006724729.1:p.Leu2433Ser
XM_006724667.2:c.7136T>C	XP_006724730.1:p.Leu2379Ser
XR_938400.1:n.9007T>C
NM_000489.5:c.7415T>C	NP_000480.3:p.Leu2472Ser
XM_005262153.5:c.7412T>C	XP_005262210.2:p.Leu2471Ser
XM_005262154.5:c.7328T>C	XP_005262211.2:p.Leu2443Ser
XM_005262155.4:c.7298T>C	XP_005262212.2:p.Leu2433Ser
XM_005262156.4:c.7250T>C	XP_005262213.2:p.Leu2417Ser
XM_005262157.5:c.7211T>C	XP_005262214.2:p.Leu2404Ser
XM_006724666.4:c.7298T>C	XP_006724729.1:p.Leu2433Ser
XM_006724667.3:c.7136T>C	XP_006724730.1:p.Leu2379Ser
XM_017029601.2:c.7325T>C	XP_016885090.1:p.Leu2442Ser
XM_017029602.1:c.7295T>C	XP_016885091.1:p.Leu2432Ser
XM_017029603.1:c.7247T>C	XP_016885092.1:p.Leu2416Ser
XM_017029604.2:c.7214T>C	XP_016885093.1:p.Leu2405Ser
XM_017029605.1:c.7211T>C	XP_016885094.1:p.Leu2404Ser
XM_017029606.2:c.7184T>C	XP_016885095.1:p.Leu2395Ser
XM_017029607.2:c.7181T>C	XP_016885096.1:p.Leu2394Ser
XM_017029608.2:c.7133T>C	XP_016885097.1:p.Leu2378Ser
XM_017029609.1:c.7097T>C	XP_016885098.1:p.Leu2366Ser
XM_017029610.1:c.7094T>C	XP_016885099.1:p.Leu2365Ser
XM_017029611.1:c.7049T>C	XP_016885100.1:p.Leu2350Ser
XR_001755700.2:n.7714T>C
NM_138270.4:c.7301T>C	NP_612114.2:p.Leu2434Ser
NM_000489.6:c.7415T>C MANE Select	NP_000480.3:p.Leu2472Ser
NM_138270.5:c.7301T>C	NP_612114.2:p.Leu2434Ser