Canonical Allele Identifier: CA415184054

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2852688
• ClinVar RCV Id: RCV003623270
• MyVariant Identifiers: chrX:g.153648371G>A (hg19) ; chrX:g.154420032G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420032G>A , CM000685.2:g.154420032G>A	GRCh38
NC_000023.10:g.153648371G>A , CM000685.1:g.153648371G>A	GRCh37
NC_000023.9:g.153301565G>A	NCBI36
NG_009634.1:g.13495G>A
NG_009634.2:g.13498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1394G>A
ENST00000698317.1:n.2010G>A
ENST00000698318.1:n.1793G>A
ENST00000698319.1:n.1156G>A
ENST00000698320.1:n.1044G>A
ENST00000470127.2:n.1057G>A
ENST00000475699.6:c.548G>A	ENSP00000419854.3:p.Gly183Glu
ENST00000483674.3:n.466G>A
ENST00000601016.6:c.584G>A MANE Select	ENSP00000469981.1:p.Gly195Glu
ENST00000612012.5:c.542G>A	ENSP00000482070.2:p.Gly181Glu
ENST00000612460.5:c.494G>A	ENSP00000481037.1:p.Gly165Glu
ENST00000614595.2:n.1931G>A
ENST00000615658.5:n.1173G>A
ENST00000616020.5:c.596G>A	ENSP00000483636.2:p.Gly199Glu
ENST00000617701.5:c.*597G>A	ENSP00000481645.1:n.*597G>A
ENST00000652354.1:c.266G>A	ENSP00000498734.1:p.Gly89Glu
ENST00000652358.1:c.377G>A	ENSP00000498464.1:p.Gly126Glu
ENST00000652390.1:c.503G>A	ENSP00000498858.1:p.Gly168Glu
ENST00000652476.1:n.1250G>A
ENST00000652644.1:c.197G>A	ENSP00000498496.1:p.Gly66Glu
ENST00000652682.1:c.641G>A	ENSP00000498288.1:p.Gly214Glu
ENST00000652685.1:n.937G>A
ENST00000369776.8:c.377G>A	ENSP00000358791.4:p.Gly126Glu
ENST00000426231.5:c.581G>A
ENST00000439735.2:c.491G>A	ENSP00000398193.1:p.Gly164Glu
ENST00000470127.1:n.163G>A
ENST00000475699.5:c.542G>A	ENSP00000419854.2:p.Gly181Glu
ENST00000494912.5:n.1273G>A
ENST00000498029.1:n.42G>A
ENST00000601016.5:c.584G>A	ENSP00000469981.1:p.Gly195Glu
ENST00000612012.4:c.548G>A	ENSP00000482070.1:p.Gly183Glu
ENST00000612460.4:c.494G>A	ENSP00000481037.1:p.Gly165Glu
ENST00000613002.4:c.452G>A	ENSP00000478154.1:p.Gly151Glu
ENST00000613634.4:n.1099G>A
ENST00000615658.4:n.1273G>A
ENST00000615986.4:c.*312G>A	ENSP00000480133.1:n.*312G>A
ENST00000620808.4:c.*170G>A	ENSP00000479311.1:n.*170G>A
NM_000116.4:c.584G>A	NP_000107.1:p.Gly195Glu
NM_001303465.1:c.596G>A	NP_001290394.1:p.Gly199Glu
NM_181311.3:c.494G>A	NP_851828.1:p.Gly165Glu
NM_181312.3:c.542G>A	NP_851829.1:p.Gly181Glu
NM_181313.3:c.452G>A	NP_851830.1:p.Gly151Glu
NR_024048.2:n.926G>A
XM_006724836.1:c.638G>A	XP_006724899.1:p.Gly213Glu
XM_006724837.1:c.506G>A	XP_006724900.1:p.Gly169Glu
XM_006724839.1:c.506G>A	XP_006724902.1:p.Gly169Glu
XM_006724841.2:c.377G>A	XP_006724904.1:p.Gly126Glu
XM_006724842.2:c.287G>A	XP_006724905.1:p.Gly96Glu
XM_011531189.1:c.425G>A	XP_011529491.1:p.Gly142Glu
XM_011531190.1:c.377G>A	XP_011529492.1:p.Gly126Glu
XM_011531191.1:c.308G>A	XP_011529493.1:p.Gly103Glu
XM_011531192.1:c.305G>A	XP_011529494.1:p.Gly102Glu
XR_938511.1:n.932G>A
XM_006724841.4:c.377G>A	XP_006724904.1:p.Gly126Glu
XM_006724842.4:c.287G>A	XP_006724905.1:p.Gly96Glu
XM_011531191.2:c.308G>A	XP_011529493.1:p.Gly103Glu
XM_017029761.1:c.452G>A	XP_016885250.1:p.Gly151Glu
XM_017029762.1:c.548G>A	XP_016885251.1:p.Gly183Glu
XM_017029763.1:c.371G>A	XP_016885252.1:p.Gly124Glu
XM_017029764.1:c.305G>A	XP_016885253.1:p.Gly102Glu
XM_017029765.2:c.245G>A	XP_016885254.1:p.Gly82Glu
XM_024452431.1:c.425G>A	XP_024308199.1:p.Gly142Glu
NM_000116.5:c.584G>A MANE Select	NP_000107.1:p.Gly195Glu
NM_001303465.2:c.596G>A	NP_001290394.1:p.Gly199Glu
NM_181311.4:c.494G>A	NP_851828.1:p.Gly165Glu
NM_181312.4:c.542G>A	NP_851829.1:p.Gly181Glu
NM_181313.4:c.452G>A	NP_851830.1:p.Gly151Glu
NR_024048.3:n.905G>A