Canonical Allele Identifier: CA308814

Gene: TAFAZZIN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419608C>T , CM000685.2:g.154419608C>T	GRCh38
NC_000023.10:g.153647947C>T , CM000685.1:g.153647947C>T	GRCh37
NC_000023.9:g.153301141C>T	NCBI36
NG_009634.1:g.13071C>T
NG_009634.2:g.13074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.970C>T
ENST00000698317.1:n.1586C>T
ENST00000698318.1:n.1369C>T
ENST00000698319.1:n.732C>T
ENST00000698320.1:n.620C>T
ENST00000470127.2:n.714C>T
ENST00000475699.6:c.490C>T	ENSP00000419854.3:p.His164Tyr
ENST00000483674.3:n.327C>T
ENST00000601016.6:c.526C>T MANE Select	ENSP00000469981.1:p.His176Tyr
ENST00000612012.5:c.526C>T	ENSP00000482070.2:p.His176Tyr
ENST00000612460.5:c.436C>T	ENSP00000481037.1:p.His146Tyr
ENST00000614595.2:n.1873C>T
ENST00000615658.5:n.749C>T
ENST00000616020.5:c.580C>T	ENSP00000483636.2:p.His194Tyr
ENST00000617701.5:c.*254C>T	ENSP00000481645.1:n.*254C>T
ENST00000652354.1:c.250C>T	ENSP00000498734.1:p.His84Tyr
ENST00000652358.1:c.319C>T	ENSP00000498464.1:p.His107Tyr
ENST00000652390.1:c.445C>T	ENSP00000498858.1:p.His149Tyr
ENST00000652476.1:n.826C>T
ENST00000652644.1:c.139C>T	ENSP00000498496.1:p.His47Tyr
ENST00000652682.1:c.583C>T	ENSP00000498288.1:p.His195Tyr
ENST00000652685.1:n.594C>T
ENST00000369776.8:c.361C>T	ENSP00000358791.4:p.His121Tyr
ENST00000426231.5:c.442C>T
ENST00000439735.2:c.433C>T	ENSP00000398193.1:p.His145Tyr
ENST00000470127.1:n.105C>T
ENST00000475699.5:c.526C>T	ENSP00000419854.2:p.His176Tyr
ENST00000476679.5:n.439C>T
ENST00000483674.2:n.145C>T
ENST00000483780.5:n.210C>T
ENST00000494912.5:n.1134C>T
ENST00000601016.5:c.526C>T	ENSP00000469981.1:p.His176Tyr
ENST00000612012.4:c.490C>T	ENSP00000482070.1:p.His164Tyr
ENST00000612460.4:c.436C>T	ENSP00000481037.1:p.His146Tyr
ENST00000613002.4:c.436C>T	ENSP00000478154.1:p.His146Tyr
ENST00000613634.4:n.756C>T
ENST00000615658.4:n.849C>T
ENST00000615986.4:c.*254C>T	ENSP00000480133.1:n.*254C>T
ENST00000620808.4:c.*170-424C>T	ENSP00000479311.1:n.*170-424C>T
NM_000116.4:c.526C>T	NP_000107.1:p.His176Tyr
NM_001303465.1:c.580C>T	NP_001290394.1:p.His194Tyr
NM_181311.3:c.436C>T	NP_851828.1:p.His146Tyr
NM_181312.3:c.526C>T	NP_851829.1:p.His176Tyr
NM_181313.3:c.436C>T	NP_851830.1:p.His146Tyr
NR_024048.2:n.868C>T
XM_006724836.1:c.580C>T	XP_006724899.1:p.His194Tyr
XM_006724837.1:c.490C>T	XP_006724900.1:p.His164Tyr
XM_006724839.1:c.490C>T	XP_006724902.1:p.His164Tyr
XM_006724841.2:c.319C>T	XP_006724904.1:p.His107Tyr
XM_006724842.2:c.229C>T	XP_006724905.1:p.His77Tyr
XM_011531189.1:c.425-424C>T	XP_011529491.1:n.425-424C>T
XM_011531190.1:c.319C>T	XP_011529492.1:p.His107Tyr
XM_011531191.1:c.250C>T	XP_011529493.1:p.His84Tyr
XM_011531192.1:c.247C>T	XP_011529494.1:p.His83Tyr
XR_938511.1:n.793C>T
XM_006724841.4:c.319C>T	XP_006724904.1:p.His107Tyr
XM_006724842.4:c.229C>T	XP_006724905.1:p.His77Tyr
XM_011531191.2:c.250C>T	XP_011529493.1:p.His84Tyr
XM_017029761.1:c.436C>T	XP_016885250.1:p.His146Tyr
XM_017029762.1:c.490C>T	XP_016885251.1:p.His164Tyr
XM_017029763.1:c.371-424C>T	XP_016885252.1:n.371-424C>T
XM_017029764.1:c.247C>T	XP_016885253.1:p.His83Tyr
XM_017029765.2:c.229C>T	XP_016885254.1:p.His77Tyr
XM_024452431.1:c.425-424C>T	XP_024308199.1:n.425-424C>T
NM_000116.5:c.526C>T MANE Select	NP_000107.1:p.His176Tyr
NM_001303465.2:c.580C>T	NP_001290394.1:p.His194Tyr
NM_181311.4:c.436C>T	NP_851828.1:p.His146Tyr
NM_181312.4:c.526C>T	NP_851829.1:p.His176Tyr
NM_181313.4:c.436C>T	NP_851830.1:p.His146Tyr
NR_024048.3:n.847C>T