Canonical Allele Identifier: CA519278016

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420054-G-A
• MyVariant Identifiers: chrX:g.153648393G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1416G>A
ENST00000698317.1:n.2032G>A
ENST00000698318.1:n.1815G>A
ENST00000698319.1:n.1178G>A
ENST00000698320.1:n.1066G>A
ENST00000470127.2:n.1079G>A
ENST00000475699.6:c.570G>A	ENSP00000419854.3:p.Glu190=
ENST00000483674.3:n.488G>A
ENST00000601016.6:c.606G>A MANE Select	ENSP00000469981.1:p.Glu202=
ENST00000612012.5:c.564G>A	ENSP00000482070.2:p.Glu188=
ENST00000612460.5:c.516G>A	ENSP00000481037.1:p.Glu172=
ENST00000614595.2:n.1953G>A
ENST00000615658.5:n.1195G>A
ENST00000616020.5:c.618G>A	ENSP00000483636.2:p.Glu206=
ENST00000617701.5:c.*619G>A	ENSP00000481645.1:n.*619G>A
ENST00000652354.1:c.288G>A	ENSP00000498734.1:p.Glu96=
ENST00000652358.1:c.399G>A	ENSP00000498464.1:p.Glu133=
ENST00000652390.1:c.525G>A	ENSP00000498858.1:p.Glu175=
ENST00000652476.1:n.1272G>A
ENST00000652644.1:c.219G>A	ENSP00000498496.1:p.Glu73=
ENST00000652682.1:c.663G>A	ENSP00000498288.1:p.Glu221=
ENST00000652685.1:n.959G>A
ENST00000369776.8:c.399G>A	ENSP00000358791.4:p.Glu133=
ENST00000426231.5:c.603G>A
ENST00000439735.2:c.513G>A	ENSP00000398193.1:p.Glu171=
ENST00000470127.1:n.185G>A
ENST00000475699.5:c.564G>A	ENSP00000419854.2:p.Glu188=
ENST00000494912.5:n.1295G>A
ENST00000498029.1:n.64G>A
ENST00000601016.5:c.606G>A	ENSP00000469981.1:p.Glu202=
ENST00000612012.4:c.570G>A	ENSP00000482070.1:p.Glu190=
ENST00000612460.4:c.516G>A	ENSP00000481037.1:p.Glu172=
ENST00000613002.4:c.474G>A	ENSP00000478154.1:p.Glu158=
ENST00000615658.4:n.1295G>A
ENST00000615986.4:c.*334G>A	ENSP00000480133.1:n.*334G>A
ENST00000620808.4:c.*192G>A	ENSP00000479311.1:n.*192G>A
NM_000116.4:c.606G>A	NP_000107.1:p.Glu202=
NM_001303465.1:c.618G>A	NP_001290394.1:p.Glu206=
NM_181311.3:c.516G>A	NP_851828.1:p.Glu172=
NM_181312.3:c.564G>A	NP_851829.1:p.Glu188=
NM_181313.3:c.474G>A	NP_851830.1:p.Glu158=
NR_024048.2:n.948G>A
XM_006724836.1:c.660G>A	XP_006724899.1:p.Glu220=
XM_006724837.1:c.528G>A	XP_006724900.1:p.Glu176=
XM_006724839.1:c.528G>A	XP_006724902.1:p.Glu176=
XM_006724841.2:c.399G>A	XP_006724904.1:p.Glu133=
XM_006724842.2:c.309G>A	XP_006724905.1:p.Glu103=
XM_011531189.1:c.447G>A	XP_011529491.1:p.Glu149=
XM_011531190.1:c.399G>A	XP_011529492.1:p.Glu133=
XM_011531191.1:c.330G>A	XP_011529493.1:p.Glu110=
XM_011531192.1:c.327G>A	XP_011529494.1:p.Glu109=
XR_938511.1:n.954G>A
XM_006724841.4:c.399G>A	XP_006724904.1:p.Glu133=
XM_006724842.4:c.309G>A	XP_006724905.1:p.Glu103=
XM_011531191.2:c.330G>A	XP_011529493.1:p.Glu110=
XM_017029761.1:c.474G>A	XP_016885250.1:p.Glu158=
XM_017029762.1:c.570G>A	XP_016885251.1:p.Glu190=
XM_017029763.1:c.393G>A	XP_016885252.1:p.Glu131=
XM_017029764.1:c.327G>A	XP_016885253.1:p.Glu109=
XM_017029765.2:c.267G>A	XP_016885254.1:p.Glu89=
XM_024452431.1:c.447G>A	XP_024308199.1:p.Glu149=
NM_000116.5:c.606G>A MANE Select	NP_000107.1:p.Glu202=
NM_001303465.2:c.618G>A	NP_001290394.1:p.Glu206=
NM_181311.4:c.516G>A	NP_851828.1:p.Glu172=
NM_181312.4:c.564G>A	NP_851829.1:p.Glu188=
NM_181313.4:c.474G>A	NP_851830.1:p.Glu158=
NR_024048.3:n.927G>A