Canonical Allele Identifier: CA415184244

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648401T>C (hg19) ; chrX:g.154420062T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420062T>C , CM000685.2:g.154420062T>C	GRCh38
NC_000023.10:g.153648401T>C , CM000685.1:g.153648401T>C	GRCh37
NC_000023.9:g.153301595T>C	NCBI36
NG_009634.1:g.13525T>C
NG_009634.2:g.13528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1424T>C
ENST00000698317.1:n.2040T>C
ENST00000698318.1:n.1823T>C
ENST00000698319.1:n.1186T>C
ENST00000698320.1:n.1074T>C
ENST00000470127.2:n.1087T>C
ENST00000475699.6:c.578T>C	ENSP00000419854.3:p.Leu193Pro
ENST00000483674.3:n.496T>C
ENST00000601016.6:c.614T>C MANE Select	ENSP00000469981.1:p.Leu205Pro
ENST00000612012.5:c.572T>C	ENSP00000482070.2:p.Leu191Pro
ENST00000612460.5:c.524T>C	ENSP00000481037.1:p.Leu175Pro
ENST00000614595.2:n.1961T>C
ENST00000615658.5:n.1203T>C
ENST00000616020.5:c.626T>C	ENSP00000483636.2:p.Leu209Pro
ENST00000617701.5:c.*627T>C	ENSP00000481645.1:n.*627T>C
ENST00000652354.1:c.296T>C	ENSP00000498734.1:p.Leu99Pro
ENST00000652358.1:c.407T>C	ENSP00000498464.1:p.Leu136Pro
ENST00000652390.1:c.533T>C	ENSP00000498858.1:p.Leu178Pro
ENST00000652476.1:n.1280T>C
ENST00000652644.1:c.227T>C	ENSP00000498496.1:p.Leu76Pro
ENST00000652682.1:c.671T>C	ENSP00000498288.1:p.Leu224Pro
ENST00000652685.1:n.967T>C
ENST00000369776.8:c.407T>C	ENSP00000358791.4:p.Leu136Pro
ENST00000426231.5:c.611T>C
ENST00000439735.2:c.521T>C	ENSP00000398193.1:p.Leu174Pro
ENST00000470127.1:n.193T>C
ENST00000475699.5:c.572T>C	ENSP00000419854.2:p.Leu191Pro
ENST00000494912.5:n.1303T>C
ENST00000498029.1:n.72T>C
ENST00000601016.5:c.614T>C	ENSP00000469981.1:p.Leu205Pro
ENST00000612012.4:c.578T>C	ENSP00000482070.1:p.Leu193Pro
ENST00000612460.4:c.524T>C	ENSP00000481037.1:p.Leu175Pro
ENST00000613002.4:c.482T>C	ENSP00000478154.1:p.Leu161Pro
ENST00000615658.4:n.1303T>C
ENST00000615986.4:c.*342T>C	ENSP00000480133.1:n.*342T>C
ENST00000620808.4:c.*200T>C	ENSP00000479311.1:n.*200T>C
NM_000116.4:c.614T>C	NP_000107.1:p.Leu205Pro
NM_001303465.1:c.626T>C	NP_001290394.1:p.Leu209Pro
NM_181311.3:c.524T>C	NP_851828.1:p.Leu175Pro
NM_181312.3:c.572T>C	NP_851829.1:p.Leu191Pro
NM_181313.3:c.482T>C	NP_851830.1:p.Leu161Pro
NR_024048.2:n.956T>C
XM_006724836.1:c.668T>C	XP_006724899.1:p.Leu223Pro
XM_006724837.1:c.536T>C	XP_006724900.1:p.Leu179Pro
XM_006724839.1:c.536T>C	XP_006724902.1:p.Leu179Pro
XM_006724841.2:c.407T>C	XP_006724904.1:p.Leu136Pro
XM_006724842.2:c.317T>C	XP_006724905.1:p.Leu106Pro
XM_011531189.1:c.455T>C	XP_011529491.1:p.Leu152Pro
XM_011531190.1:c.407T>C	XP_011529492.1:p.Leu136Pro
XM_011531191.1:c.338T>C	XP_011529493.1:p.Leu113Pro
XM_011531192.1:c.335T>C	XP_011529494.1:p.Leu112Pro
XR_938511.1:n.962T>C
XM_006724841.4:c.407T>C	XP_006724904.1:p.Leu136Pro
XM_006724842.4:c.317T>C	XP_006724905.1:p.Leu106Pro
XM_011531191.2:c.338T>C	XP_011529493.1:p.Leu113Pro
XM_017029761.1:c.482T>C	XP_016885250.1:p.Leu161Pro
XM_017029762.1:c.578T>C	XP_016885251.1:p.Leu193Pro
XM_017029763.1:c.401T>C	XP_016885252.1:p.Leu134Pro
XM_017029764.1:c.335T>C	XP_016885253.1:p.Leu112Pro
XM_017029765.2:c.275T>C	XP_016885254.1:p.Leu92Pro
XM_024452431.1:c.455T>C	XP_024308199.1:p.Leu152Pro
NM_000116.5:c.614T>C MANE Select	NP_000107.1:p.Leu205Pro
NM_001303465.2:c.626T>C	NP_001290394.1:p.Leu209Pro
NM_181311.4:c.524T>C	NP_851828.1:p.Leu175Pro
NM_181312.4:c.572T>C	NP_851829.1:p.Leu191Pro
NM_181313.4:c.482T>C	NP_851830.1:p.Leu161Pro
NR_024048.3:n.935T>C