Canonical Allele Identifier: CA413722519

Gene: ATRX

Linked Data

• MyVariant Identifiers: chrX:g.76944349T>G (hg19) ; chrX:g.77688856T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.77688856T>G , CM000685.2:g.77688856T>G	GRCh38
NC_000023.10:g.76944349T>G , CM000685.1:g.76944349T>G	GRCh37
NC_000023.9:g.76831005T>G	NCBI36
NG_008838.2:g.102366A>C
NG_008838.3:g.102414A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373344.11:c.556A>C MANE Select	ENSP00000362441.4:p.Ile186Leu
ENST00000373344.9:c.556A>C	ENSP00000362441.4:p.Ile186Leu
ENST00000395603.7:c.442A>C	ENSP00000378967.3:p.Ile148Leu
ENST00000480283.5:c.*184A>C	ENSP00000480196.1:n.*184A>C
ENST00000623321.3:c.391A>C	ENSP00000485127.1:p.Ile131Leu
ENST00000624032.3:c.556A>C	ENSP00000485253.1:p.Ile186Leu
ENST00000624166.3:c.439A>C	ENSP00000485103.1:p.Ile147Leu
ENST00000624668.3:c.277A>C	ENSP00000485100.1:p.Ile93Leu
ENST00000625063.3:c.371A>C
NM_000489.4:c.556A>C	NP_000480.3:p.Ile186Leu
NM_138270.3:c.442A>C	NP_612114.2:p.Ile148Leu
XM_005262153.3:c.553A>C	XP_005262210.2:p.Ile185Leu
XM_005262154.3:c.556A>C	XP_005262211.2:p.Ile186Leu
XM_005262155.3:c.439A>C	XP_005262212.2:p.Ile147Leu
XM_005262156.3:c.391A>C	XP_005262213.2:p.Ile131Leu
XM_005262157.3:c.439A>C	XP_005262214.2:p.Ile147Leu
XM_006724666.2:c.439A>C	XP_006724729.1:p.Ile147Leu
XM_006724667.2:c.277A>C	XP_006724730.1:p.Ile93Leu
XM_006724668.2:c.556A>C	XP_006724731.1:p.Ile186Leu
XR_938400.1:n.824A>C
NM_000489.5:c.556A>C	NP_000480.3:p.Ile186Leu
XM_005262153.5:c.553A>C	XP_005262210.2:p.Ile185Leu
XM_005262154.5:c.556A>C	XP_005262211.2:p.Ile186Leu
XM_005262155.4:c.439A>C	XP_005262212.2:p.Ile147Leu
XM_005262156.4:c.391A>C	XP_005262213.2:p.Ile131Leu
XM_005262157.5:c.439A>C	XP_005262214.2:p.Ile147Leu
XM_006724666.4:c.439A>C	XP_006724729.1:p.Ile147Leu
XM_006724667.3:c.277A>C	XP_006724730.1:p.Ile93Leu
XM_006724668.3:c.556A>C	XP_006724731.1:p.Ile186Leu
XM_017029601.2:c.553A>C	XP_016885090.1:p.Ile185Leu
XM_017029602.1:c.436A>C	XP_016885091.1:p.Ile146Leu
XM_017029603.1:c.388A>C	XP_016885092.1:p.Ile130Leu
XM_017029604.2:c.442A>C	XP_016885093.1:p.Ile148Leu
XM_017029605.1:c.439A>C	XP_016885094.1:p.Ile147Leu
XM_017029606.2:c.325A>C	XP_016885095.1:p.Ile109Leu
XM_017029607.2:c.322A>C	XP_016885096.1:p.Ile108Leu
XM_017029608.2:c.274A>C	XP_016885097.1:p.Ile92Leu
XM_017029609.1:c.325A>C	XP_016885098.1:p.Ile109Leu
XM_017029610.1:c.322A>C	XP_016885099.1:p.Ile108Leu
XM_017029611.1:c.277A>C	XP_016885100.1:p.Ile93Leu
XR_001755700.2:n.781A>C
NM_138270.4:c.442A>C	NP_612114.2:p.Ile148Leu
NM_000489.6:c.556A>C MANE Select	NP_000480.3:p.Ile186Leu
NM_138270.5:c.442A>C	NP_612114.2:p.Ile148Leu