Canonical Allele Identifier: CA415184001

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648083G>T (hg19) ; chrX:g.154419744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419744G>T , CM000685.2:g.154419744G>T	GRCh38
NC_000023.10:g.153648083G>T , CM000685.1:g.153648083G>T	GRCh37
NC_000023.9:g.153301277G>T	NCBI36
NG_009634.1:g.13207G>T
NG_009634.2:g.13210G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1106G>T
ENST00000698317.1:n.1722G>T
ENST00000698318.1:n.1505G>T
ENST00000698319.1:n.868G>T
ENST00000698320.1:n.756G>T
ENST00000470127.2:n.769G>T
ENST00000475699.6:c.545G>T	ENSP00000419854.3:p.Trp182Leu
ENST00000483674.3:n.463G>T
ENST00000601016.6:c.581G>T MANE Select	ENSP00000469981.1:p.Trp194Leu
ENST00000612012.5:c.541+121G>T	ENSP00000482070.2:n.541+121G>T
ENST00000612460.5:c.491G>T	ENSP00000481037.1:p.Trp164Leu
ENST00000614595.2:n.1928G>T
ENST00000615658.5:n.885G>T
ENST00000616020.5:c.595+121G>T	ENSP00000483636.2:n.595+121G>T
ENST00000617701.5:c.*309G>T	ENSP00000481645.1:n.*309G>T
ENST00000652354.1:c.265+121G>T	ENSP00000498734.1:n.265+121G>T
ENST00000652358.1:c.374G>T	ENSP00000498464.1:p.Trp125Leu
ENST00000652390.1:c.500G>T	ENSP00000498858.1:p.Trp167Leu
ENST00000652476.1:n.962G>T
ENST00000652644.1:c.194G>T	ENSP00000498496.1:p.Trp65Leu
ENST00000652682.1:c.638G>T	ENSP00000498288.1:p.Trp213Leu
ENST00000652685.1:n.649G>T
ENST00000369776.8:c.376+121G>T	ENSP00000358791.4:n.376+121G>T
ENST00000426231.5:c.578G>T
ENST00000439735.2:c.488G>T	ENSP00000398193.1:p.Trp163Leu
ENST00000470127.1:n.160G>T
ENST00000475699.5:c.541+121G>T	ENSP00000419854.2:n.541+121G>T
ENST00000476679.5:n.575G>T
ENST00000483780.5:n.346G>T
ENST00000494912.5:n.1270G>T
ENST00000601016.5:c.581G>T	ENSP00000469981.1:p.Trp194Leu
ENST00000612012.4:c.545G>T	ENSP00000482070.1:p.Trp182Leu
ENST00000612460.4:c.491G>T	ENSP00000481037.1:p.Trp164Leu
ENST00000613002.4:c.451+121G>T	ENSP00000478154.1:n.451+121G>T
ENST00000613634.4:n.811G>T
ENST00000615658.4:n.985G>T
ENST00000615986.4:c.*309G>T	ENSP00000480133.1:n.*309G>T
ENST00000620808.4:c.*170-288G>T	ENSP00000479311.1:n.*170-288G>T
NM_000116.4:c.581G>T	NP_000107.1:p.Trp194Leu
NM_001303465.1:c.595+121G>T	NP_001290394.1:n.595+121G>T
NM_181311.3:c.491G>T	NP_851828.1:p.Trp164Leu
NM_181312.3:c.541+121G>T	NP_851829.1:n.541+121G>T
NM_181313.3:c.451+121G>T	NP_851830.1:n.451+121G>T
NR_024048.2:n.923G>T
XM_006724836.1:c.635G>T	XP_006724899.1:p.Trp212Leu
XM_006724837.1:c.505+121G>T	XP_006724900.1:n.505+121G>T
XM_006724839.1:c.505+121G>T	XP_006724902.1:n.505+121G>T
XM_006724841.2:c.374G>T	XP_006724904.1:p.Trp125Leu
XM_006724842.2:c.284G>T	XP_006724905.1:p.Trp95Leu
XM_011531189.1:c.425-288G>T	XP_011529491.1:n.425-288G>T
XM_011531190.1:c.374G>T	XP_011529492.1:p.Trp125Leu
XM_011531191.1:c.305G>T	XP_011529493.1:p.Trp102Leu
XM_011531192.1:c.302G>T	XP_011529494.1:p.Trp101Leu
XR_938511.1:n.929G>T
XM_006724841.4:c.374G>T	XP_006724904.1:p.Trp125Leu
XM_006724842.4:c.284G>T	XP_006724905.1:p.Trp95Leu
XM_011531191.2:c.305G>T	XP_011529493.1:p.Trp102Leu
XM_017029761.1:c.451+121G>T	XP_016885250.1:n.451+121G>T
XM_017029762.1:c.545G>T	XP_016885251.1:p.Trp182Leu
XM_017029763.1:c.371-288G>T	XP_016885252.1:n.371-288G>T
XM_017029764.1:c.302G>T	XP_016885253.1:p.Trp101Leu
XM_017029765.2:c.244+121G>T	XP_016885254.1:n.244+121G>T
XM_024452431.1:c.425-288G>T	XP_024308199.1:n.425-288G>T
NM_000116.5:c.581G>T MANE Select	NP_000107.1:p.Trp194Leu
NM_001303465.2:c.595+121G>T	NP_001290394.1:n.595+121G>T
NM_181311.4:c.491G>T	NP_851828.1:p.Trp164Leu
NM_181312.4:c.541+121G>T	NP_851829.1:n.541+121G>T
NM_181313.4:c.451+121G>T	NP_851830.1:n.451+121G>T
NR_024048.3:n.902G>T