Canonical Allele Identifier: CA415184185

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648393G>T (hg19) ; chrX:g.154420054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420054G>T , CM000685.2:g.154420054G>T	GRCh38
NC_000023.10:g.153648393G>T , CM000685.1:g.153648393G>T	GRCh37
NC_000023.9:g.153301587G>T	NCBI36
NG_009634.1:g.13517G>T
NG_009634.2:g.13520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1416G>T
ENST00000698317.1:n.2032G>T
ENST00000698318.1:n.1815G>T
ENST00000698319.1:n.1178G>T
ENST00000698320.1:n.1066G>T
ENST00000470127.2:n.1079G>T
ENST00000475699.6:c.570G>T	ENSP00000419854.3:p.Glu190Asp
ENST00000483674.3:n.488G>T
ENST00000601016.6:c.606G>T MANE Select	ENSP00000469981.1:p.Glu202Asp
ENST00000612012.5:c.564G>T	ENSP00000482070.2:p.Glu188Asp
ENST00000612460.5:c.516G>T	ENSP00000481037.1:p.Glu172Asp
ENST00000614595.2:n.1953G>T
ENST00000615658.5:n.1195G>T
ENST00000616020.5:c.618G>T	ENSP00000483636.2:p.Glu206Asp
ENST00000617701.5:c.*619G>T	ENSP00000481645.1:n.*619G>T
ENST00000652354.1:c.288G>T	ENSP00000498734.1:p.Glu96Asp
ENST00000652358.1:c.399G>T	ENSP00000498464.1:p.Glu133Asp
ENST00000652390.1:c.525G>T	ENSP00000498858.1:p.Glu175Asp
ENST00000652476.1:n.1272G>T
ENST00000652644.1:c.219G>T	ENSP00000498496.1:p.Glu73Asp
ENST00000652682.1:c.663G>T	ENSP00000498288.1:p.Glu221Asp
ENST00000652685.1:n.959G>T
ENST00000369776.8:c.399G>T	ENSP00000358791.4:p.Glu133Asp
ENST00000426231.5:c.603G>T
ENST00000439735.2:c.513G>T	ENSP00000398193.1:p.Glu171Asp
ENST00000470127.1:n.185G>T
ENST00000475699.5:c.564G>T	ENSP00000419854.2:p.Glu188Asp
ENST00000494912.5:n.1295G>T
ENST00000498029.1:n.64G>T
ENST00000601016.5:c.606G>T	ENSP00000469981.1:p.Glu202Asp
ENST00000612012.4:c.570G>T	ENSP00000482070.1:p.Glu190Asp
ENST00000612460.4:c.516G>T	ENSP00000481037.1:p.Glu172Asp
ENST00000613002.4:c.474G>T	ENSP00000478154.1:p.Glu158Asp
ENST00000615658.4:n.1295G>T
ENST00000615986.4:c.*334G>T	ENSP00000480133.1:n.*334G>T
ENST00000620808.4:c.*192G>T	ENSP00000479311.1:n.*192G>T
NM_000116.4:c.606G>T	NP_000107.1:p.Glu202Asp
NM_001303465.1:c.618G>T	NP_001290394.1:p.Glu206Asp
NM_181311.3:c.516G>T	NP_851828.1:p.Glu172Asp
NM_181312.3:c.564G>T	NP_851829.1:p.Glu188Asp
NM_181313.3:c.474G>T	NP_851830.1:p.Glu158Asp
NR_024048.2:n.948G>T
XM_006724836.1:c.660G>T	XP_006724899.1:p.Glu220Asp
XM_006724837.1:c.528G>T	XP_006724900.1:p.Glu176Asp
XM_006724839.1:c.528G>T	XP_006724902.1:p.Glu176Asp
XM_006724841.2:c.399G>T	XP_006724904.1:p.Glu133Asp
XM_006724842.2:c.309G>T	XP_006724905.1:p.Glu103Asp
XM_011531189.1:c.447G>T	XP_011529491.1:p.Glu149Asp
XM_011531190.1:c.399G>T	XP_011529492.1:p.Glu133Asp
XM_011531191.1:c.330G>T	XP_011529493.1:p.Glu110Asp
XM_011531192.1:c.327G>T	XP_011529494.1:p.Glu109Asp
XR_938511.1:n.954G>T
XM_006724841.4:c.399G>T	XP_006724904.1:p.Glu133Asp
XM_006724842.4:c.309G>T	XP_006724905.1:p.Glu103Asp
XM_011531191.2:c.330G>T	XP_011529493.1:p.Glu110Asp
XM_017029761.1:c.474G>T	XP_016885250.1:p.Glu158Asp
XM_017029762.1:c.570G>T	XP_016885251.1:p.Glu190Asp
XM_017029763.1:c.393G>T	XP_016885252.1:p.Glu131Asp
XM_017029764.1:c.327G>T	XP_016885253.1:p.Glu109Asp
XM_017029765.2:c.267G>T	XP_016885254.1:p.Glu89Asp
XM_024452431.1:c.447G>T	XP_024308199.1:p.Glu149Asp
NM_000116.5:c.606G>T MANE Select	NP_000107.1:p.Glu202Asp
NM_001303465.2:c.618G>T	NP_001290394.1:p.Glu206Asp
NM_181311.4:c.516G>T	NP_851828.1:p.Glu172Asp
NM_181312.4:c.564G>T	NP_851829.1:p.Glu188Asp
NM_181313.4:c.474G>T	NP_851830.1:p.Glu158Asp
NR_024048.3:n.927G>T