Canonical Allele Identifier: CA10458045

Gene: ATRX

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77682573C>G , CM000685.2:g.77682573C>G	GRCh38
NC_000023.10:g.76938065C>G , CM000685.1:g.76938065C>G	GRCh37
NC_000023.9:g.76824721C>G	NCBI36
NG_008838.2:g.108649G>C
NG_008838.3:g.108697G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000489.6:c.2683G>C MANE Select	NP_000480.3:p.Val895Leu
ENST00000373344.11:c.2683G>C MANE Select	ENSP00000362441.4:p.Val895Leu
NM_000489.4:c.2683G>C	NP_000480.3:p.Val895Leu
NM_000489.5:c.2683G>C	NP_000480.3:p.Val895Leu
NM_138270.3:c.2569G>C	NP_612114.2:p.Val857Leu
NM_138270.4:c.2569G>C	NP_612114.2:p.Val857Leu
NM_138270.5:c.2569G>C	NP_612114.2:p.Val857Leu
ENST00000373344.9:c.2683G>C	ENSP00000362441.4:p.Val895Leu
ENST00000395603.7:c.2569G>C	ENSP00000378967.3:p.Val857Leu
ENST00000480283.5:c.*2311G>C	ENSP00000480196.1:n.*2311G>C
ENST00000624032.3:c.2596G>C	ENSP00000485253.1:p.Val866Leu
ENST00000624166.3:c.2479G>C	ENSP00000485103.1:p.Val827Leu
XM_005262153.3:c.2680G>C	XP_005262210.2:p.Val894Leu
XM_005262153.5:c.2680G>C	XP_005262210.2:p.Val894Leu
XM_005262154.3:c.2596G>C	XP_005262211.2:p.Val866Leu
XM_005262154.5:c.2596G>C	XP_005262211.2:p.Val866Leu
XM_005262155.3:c.2566G>C	XP_005262212.2:p.Val856Leu
XM_005262155.4:c.2566G>C	XP_005262212.2:p.Val856Leu
XM_005262156.3:c.2518G>C	XP_005262213.2:p.Val840Leu
XM_005262156.4:c.2518G>C	XP_005262213.2:p.Val840Leu
XM_005262157.3:c.2479G>C	XP_005262214.2:p.Val827Leu
XM_005262157.5:c.2479G>C	XP_005262214.2:p.Val827Leu
XM_006724666.2:c.2566G>C	XP_006724729.1:p.Val856Leu
XM_006724666.4:c.2566G>C	XP_006724729.1:p.Val856Leu
XM_006724667.2:c.2404G>C	XP_006724730.1:p.Val802Leu
XM_006724667.3:c.2404G>C	XP_006724730.1:p.Val802Leu
XM_006724668.2:c.2683G>C	XP_006724731.1:p.Val895Leu
XM_006724668.3:c.2683G>C	XP_006724731.1:p.Val895Leu
XM_017029601.2:c.2593G>C	XP_016885090.1:p.Val865Leu
XM_017029602.1:c.2563G>C	XP_016885091.1:p.Val855Leu
XM_017029603.1:c.2515G>C	XP_016885092.1:p.Val839Leu
XM_017029604.2:c.2482G>C	XP_016885093.1:p.Val828Leu
XM_017029605.1:c.2479G>C	XP_016885094.1:p.Val827Leu
XM_017029606.2:c.2452G>C	XP_016885095.1:p.Val818Leu
XM_017029607.2:c.2449G>C	XP_016885096.1:p.Val817Leu
XM_017029608.2:c.2401G>C	XP_016885097.1:p.Val801Leu
XM_017029609.1:c.2365G>C	XP_016885098.1:p.Val789Leu
XM_017029610.1:c.2362G>C	XP_016885099.1:p.Val788Leu
XM_017029611.1:c.2317G>C	XP_016885100.1:p.Val773Leu
XR_001755700.2:n.2908G>C
XR_938400.1:n.2951G>C