Canonical Allele Identifier: CA415185343

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2032873
• ClinVar RCV Id: RCV002881499
• MyVariant Identifiers: chrX:g.153649004C>T (hg19) ; chrX:g.154420665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420665C>T , CM000685.2:g.154420665C>T	GRCh38
NC_000023.10:g.153649004C>T , CM000685.1:g.153649004C>T	GRCh37
NC_000023.9:g.153302198C>T	NCBI36
NG_009634.1:g.14128C>T
NG_009634.2:g.14131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1517C>T
ENST00000698317.1:n.2133C>T
ENST00000698318.1:n.1916C>T
ENST00000698319.1:n.1279C>T
ENST00000698320.1:n.1167C>T
ENST00000470127.2:n.1180C>T
ENST00000475699.6:c.671C>T	ENSP00000419854.3:p.Thr224Ile
ENST00000483674.3:n.589C>T
ENST00000601016.6:c.707C>T MANE Select	ENSP00000469981.1:p.Thr236Ile
ENST00000612012.5:c.665C>T	ENSP00000482070.2:p.Thr222Ile
ENST00000612460.5:c.617C>T	ENSP00000481037.1:p.Thr206Ile
ENST00000614595.2:n.2054C>T
ENST00000615658.5:n.1296C>T
ENST00000616020.5:c.719C>T	ENSP00000483636.2:p.Thr240Ile
ENST00000617701.5:c.*720C>T	ENSP00000481645.1:n.*720C>T
ENST00000651139.1:c.-77C>T	ENSP00000498957.1:n.-77C>T
ENST00000652354.1:c.389C>T	ENSP00000498734.1:p.Thr130Ile
ENST00000652358.1:c.500C>T	ENSP00000498464.1:p.Thr167Ile
ENST00000652390.1:c.626C>T	ENSP00000498858.1:p.Thr209Ile
ENST00000652476.1:n.1373C>T
ENST00000652644.1:c.320C>T	ENSP00000498496.1:p.Thr107Ile
ENST00000652682.1:c.764C>T	ENSP00000498288.1:p.Thr255Ile
ENST00000652685.1:n.1060C>T
ENST00000369776.8:c.617C>T	ENSP00000358791.4:p.Thr206Ile
ENST00000426231.5:c.704C>T
ENST00000475699.5:c.665C>T	ENSP00000419854.2:p.Thr222Ile
ENST00000494912.5:n.1396C>T
ENST00000498029.1:n.165C>T
ENST00000601016.5:c.707C>T	ENSP00000469981.1:p.Thr236Ile
ENST00000612460.4:c.617C>T	ENSP00000481037.1:p.Thr206Ile
ENST00000613002.4:c.575C>T	ENSP00000478154.1:p.Thr192Ile
ENST00000615986.4:c.*435C>T	ENSP00000480133.1:n.*435C>T
NM_000116.4:c.707C>T	NP_000107.1:p.Thr236Ile
NM_001303465.1:c.719C>T	NP_001290394.1:p.Thr240Ile
NM_181311.3:c.617C>T	NP_851828.1:p.Thr206Ile
NM_181312.3:c.665C>T	NP_851829.1:p.Thr222Ile
NM_181313.3:c.575C>T	NP_851830.1:p.Thr192Ile
NR_024048.2:n.1049C>T
XM_006724836.1:c.761C>T	XP_006724899.1:p.Thr254Ile
XM_006724837.1:c.746C>T	XP_006724900.1:p.Thr249Ile
XM_006724839.1:c.629C>T	XP_006724902.1:p.Thr210Ile
XM_006724841.2:c.500C>T	XP_006724904.1:p.Thr167Ile
XM_006724842.2:c.410C>T	XP_006724905.1:p.Thr137Ile
XM_011531189.1:c.548C>T	XP_011529491.1:p.Thr183Ile
XM_011531190.1:c.500C>T	XP_011529492.1:p.Thr167Ile
XM_011531191.1:c.431C>T	XP_011529493.1:p.Thr144Ile
XM_011531192.1:c.428C>T	XP_011529494.1:p.Thr143Ile
XR_938511.1:n.1055C>T
XM_006724841.4:c.500C>T	XP_006724904.1:p.Thr167Ile
XM_006724842.4:c.410C>T	XP_006724905.1:p.Thr137Ile
XM_011531191.2:c.431C>T	XP_011529493.1:p.Thr144Ile
XM_017029761.1:c.692C>T	XP_016885250.1:p.Thr231Ile
XM_017029762.1:c.671C>T	XP_016885251.1:p.Thr224Ile
XM_017029763.1:c.494C>T	XP_016885252.1:p.Thr165Ile
XM_017029764.1:c.428C>T	XP_016885253.1:p.Thr143Ile
XM_017029765.2:c.368C>T	XP_016885254.1:p.Thr123Ile
XM_024452431.1:c.665C>T	XP_024308199.1:p.Thr222Ile
NM_000116.5:c.707C>T MANE Select	NP_000107.1:p.Thr236Ile
NM_001303465.2:c.719C>T	NP_001290394.1:p.Thr240Ile
NM_181311.4:c.617C>T	NP_851828.1:p.Thr206Ile
NM_181312.4:c.665C>T	NP_851829.1:p.Thr222Ile
NM_181313.4:c.575C>T	NP_851830.1:p.Thr192Ile
NR_024048.3:n.1028C>T