Canonical Allele Identifier: CA519277533

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641831T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413494T>G , CM000685.2:g.154413494T>G	GRCh38
NC_000023.10:g.153641831T>G , CM000685.1:g.153641831T>G	GRCh37
NC_000023.9:g.153295025T>G	NCBI36
NG_009634.1:g.6955T>G
NG_012884.2:g.3595A>C
NG_009634.2:g.6960T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.831T>G
ENST00000698235.1:n.371T>G
ENST00000698317.1:n.1357T>G
ENST00000698318.1:n.1230T>G
ENST00000470127.2:n.575T>G
ENST00000475699.6:c.351T>G	ENSP00000419854.3:p.Ala117=
ENST00000476800.2:n.1483T>G
ENST00000483674.3:n.188T>G
ENST00000601016.6:c.297T>G MANE Select	ENSP00000469981.1:p.Ala99=
ENST00000612012.5:c.297T>G	ENSP00000482070.2:p.Ala99=
ENST00000612460.5:c.297T>G	ENSP00000481037.1:p.Ala99=
ENST00000614595.2:n.1734T>G
ENST00000615658.5:n.610T>G
ENST00000616020.5:c.351T>G	ENSP00000483636.2:p.Ala117=
ENST00000617701.5:c.*115T>G	ENSP00000481645.1:n.*115T>G
ENST00000621647.2:n.579T>G
ENST00000652354.1:c.21T>G	ENSP00000498734.1:p.Ala7=
ENST00000652358.1:c.90T>G	ENSP00000498464.1:p.Ala30=
ENST00000652390.1:c.216T>G	ENSP00000498858.1:p.Ala72=
ENST00000652476.1:n.687T>G
ENST00000652682.1:c.297T>G	ENSP00000498288.1:p.Ala99=
ENST00000652685.1:n.455T>G
ENST00000369776.8:c.222T>G	ENSP00000358791.4:p.Ala74=
ENST00000426231.5:c.213T>G
ENST00000439735.2:c.297T>G	ENSP00000398193.1:p.Ala99=
ENST00000475699.5:c.297T>G	ENSP00000419854.2:p.Ala99=
ENST00000476679.5:n.210T>G
ENST00000476800.1:n.404T>G
ENST00000479875.1:n.326T>G
ENST00000483674.2:n.6T>G
ENST00000483780.5:n.71T>G
ENST00000601016.5:c.297T>G	ENSP00000469981.1:p.Ala99=
ENST00000612012.4:c.351T>G	ENSP00000482070.1:p.Ala117=
ENST00000612460.4:c.297T>G	ENSP00000481037.1:p.Ala99=
ENST00000613002.4:c.297T>G	ENSP00000478154.1:p.Ala99=
ENST00000613634.4:n.617T>G
ENST00000615658.4:n.710T>G
ENST00000615986.4:c.*115T>G	ENSP00000480133.1:n.*115T>G
ENST00000616020.4:c.351T>G	ENSP00000483636.1:p.Ala117=
ENST00000617701.4:c.*127T>G	ENSP00000481645.1:n.*127T>G
ENST00000620808.4:c.*96T>G	ENSP00000479311.1:n.*96T>G
ENST00000621647.1:n.811T>G
NM_000116.4:c.297T>G	NP_000107.1:p.Ala99=
NM_001303465.1:c.351T>G	NP_001290394.1:p.Ala117=
NM_181311.3:c.297T>G	NP_851828.1:p.Ala99=
NM_181312.3:c.297T>G	NP_851829.1:p.Ala99=
NM_181313.3:c.297T>G	NP_851830.1:p.Ala99=
NR_024048.2:n.729T>G
XM_006724836.1:c.351T>G	XP_006724899.1:p.Ala117=
XM_006724837.1:c.351T>G	XP_006724900.1:p.Ala117=
XM_006724839.1:c.351T>G	XP_006724902.1:p.Ala117=
XM_006724841.2:c.90T>G	XP_006724904.1:p.Ala30=
XM_006724842.2:c.90T>G	XP_006724905.1:p.Ala30=
XM_011531189.1:c.351T>G	XP_011529491.1:p.Ala117=
XM_011531190.1:c.90T>G	XP_011529492.1:p.Ala30=
XM_011531191.1:c.21T>G	XP_011529493.1:p.Ala7=
XM_011531192.1:c.18T>G	XP_011529494.1:p.Ala6=
XR_938511.1:n.654T>G
XM_006724841.4:c.90T>G	XP_006724904.1:p.Ala30=
XM_006724842.4:c.90T>G	XP_006724905.1:p.Ala30=
XM_011531191.2:c.21T>G	XP_011529493.1:p.Ala7=
XM_017029761.1:c.297T>G	XP_016885250.1:p.Ala99=
XM_017029762.1:c.351T>G	XP_016885251.1:p.Ala117=
XM_017029763.1:c.297T>G	XP_016885252.1:p.Ala99=
XM_017029764.1:c.18T>G	XP_016885253.1:p.Ala6=
XM_017029765.2:c.90T>G	XP_016885254.1:p.Ala30=
XM_024452431.1:c.351T>G	XP_024308199.1:p.Ala117=
NM_000116.5:c.297T>G MANE Select	NP_000107.1:p.Ala99=
NM_001303465.2:c.351T>G	NP_001290394.1:p.Ala117=
NM_181311.4:c.297T>G	NP_851828.1:p.Ala99=
NM_181312.4:c.297T>G	NP_851829.1:p.Ala99=
NM_181313.4:c.297T>G	NP_851830.1:p.Ala99=
NR_024048.3:n.708T>G