Canonical Allele Identifier: CA415184182

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648392A>G (hg19) ; chrX:g.154420053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420053A>G , CM000685.2:g.154420053A>G	GRCh38
NC_000023.10:g.153648392A>G , CM000685.1:g.153648392A>G	GRCh37
NC_000023.9:g.153301586A>G	NCBI36
NG_009634.1:g.13516A>G
NG_009634.2:g.13519A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1415A>G
ENST00000698317.1:n.2031A>G
ENST00000698318.1:n.1814A>G
ENST00000698319.1:n.1177A>G
ENST00000698320.1:n.1065A>G
ENST00000470127.2:n.1078A>G
ENST00000475699.6:c.569A>G	ENSP00000419854.3:p.Glu190Gly
ENST00000483674.3:n.487A>G
ENST00000601016.6:c.605A>G MANE Select	ENSP00000469981.1:p.Glu202Gly
ENST00000612012.5:c.563A>G	ENSP00000482070.2:p.Glu188Gly
ENST00000612460.5:c.515A>G	ENSP00000481037.1:p.Glu172Gly
ENST00000614595.2:n.1952A>G
ENST00000615658.5:n.1194A>G
ENST00000616020.5:c.617A>G	ENSP00000483636.2:p.Glu206Gly
ENST00000617701.5:c.*618A>G	ENSP00000481645.1:n.*618A>G
ENST00000652354.1:c.287A>G	ENSP00000498734.1:p.Glu96Gly
ENST00000652358.1:c.398A>G	ENSP00000498464.1:p.Glu133Gly
ENST00000652390.1:c.524A>G	ENSP00000498858.1:p.Glu175Gly
ENST00000652476.1:n.1271A>G
ENST00000652644.1:c.218A>G	ENSP00000498496.1:p.Glu73Gly
ENST00000652682.1:c.662A>G	ENSP00000498288.1:p.Glu221Gly
ENST00000652685.1:n.958A>G
ENST00000369776.8:c.398A>G	ENSP00000358791.4:p.Glu133Gly
ENST00000426231.5:c.602A>G
ENST00000439735.2:c.512A>G	ENSP00000398193.1:p.Glu171Gly
ENST00000470127.1:n.184A>G
ENST00000475699.5:c.563A>G	ENSP00000419854.2:p.Glu188Gly
ENST00000494912.5:n.1294A>G
ENST00000498029.1:n.63A>G
ENST00000601016.5:c.605A>G	ENSP00000469981.1:p.Glu202Gly
ENST00000612012.4:c.569A>G	ENSP00000482070.1:p.Glu190Gly
ENST00000612460.4:c.515A>G	ENSP00000481037.1:p.Glu172Gly
ENST00000613002.4:c.473A>G	ENSP00000478154.1:p.Glu158Gly
ENST00000615658.4:n.1294A>G
ENST00000615986.4:c.*333A>G	ENSP00000480133.1:n.*333A>G
ENST00000620808.4:c.*191A>G	ENSP00000479311.1:n.*191A>G
NM_000116.4:c.605A>G	NP_000107.1:p.Glu202Gly
NM_001303465.1:c.617A>G	NP_001290394.1:p.Glu206Gly
NM_181311.3:c.515A>G	NP_851828.1:p.Glu172Gly
NM_181312.3:c.563A>G	NP_851829.1:p.Glu188Gly
NM_181313.3:c.473A>G	NP_851830.1:p.Glu158Gly
NR_024048.2:n.947A>G
XM_006724836.1:c.659A>G	XP_006724899.1:p.Glu220Gly
XM_006724837.1:c.527A>G	XP_006724900.1:p.Glu176Gly
XM_006724839.1:c.527A>G	XP_006724902.1:p.Glu176Gly
XM_006724841.2:c.398A>G	XP_006724904.1:p.Glu133Gly
XM_006724842.2:c.308A>G	XP_006724905.1:p.Glu103Gly
XM_011531189.1:c.446A>G	XP_011529491.1:p.Glu149Gly
XM_011531190.1:c.398A>G	XP_011529492.1:p.Glu133Gly
XM_011531191.1:c.329A>G	XP_011529493.1:p.Glu110Gly
XM_011531192.1:c.326A>G	XP_011529494.1:p.Glu109Gly
XR_938511.1:n.953A>G
XM_006724841.4:c.398A>G	XP_006724904.1:p.Glu133Gly
XM_006724842.4:c.308A>G	XP_006724905.1:p.Glu103Gly
XM_011531191.2:c.329A>G	XP_011529493.1:p.Glu110Gly
XM_017029761.1:c.473A>G	XP_016885250.1:p.Glu158Gly
XM_017029762.1:c.569A>G	XP_016885251.1:p.Glu190Gly
XM_017029763.1:c.392A>G	XP_016885252.1:p.Glu131Gly
XM_017029764.1:c.326A>G	XP_016885253.1:p.Glu109Gly
XM_017029765.2:c.266A>G	XP_016885254.1:p.Glu89Gly
XM_024452431.1:c.446A>G	XP_024308199.1:p.Glu149Gly
NM_000116.5:c.605A>G MANE Select	NP_000107.1:p.Glu202Gly
NM_001303465.2:c.617A>G	NP_001290394.1:p.Glu206Gly
NM_181311.4:c.515A>G	NP_851828.1:p.Glu172Gly
NM_181312.4:c.563A>G	NP_851829.1:p.Glu188Gly
NM_181313.4:c.473A>G	NP_851830.1:p.Glu158Gly
NR_024048.3:n.926A>G