Canonical Allele Identifier: CA415185397

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649024T>C (hg19) ; chrX:g.154420685T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420685T>C , CM000685.2:g.154420685T>C	GRCh38
NC_000023.10:g.153649024T>C , CM000685.1:g.153649024T>C	GRCh37
NC_000023.9:g.153302218T>C	NCBI36
NG_009634.1:g.14148T>C
NG_009634.2:g.14151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1537T>C
ENST00000698317.1:n.2153T>C
ENST00000698318.1:n.1936T>C
ENST00000698319.1:n.1299T>C
ENST00000698320.1:n.1187T>C
ENST00000470127.2:n.1200T>C
ENST00000475699.6:c.691T>C	ENSP00000419854.3:p.Phe231Leu
ENST00000483674.3:n.609T>C
ENST00000601016.6:c.727T>C MANE Select	ENSP00000469981.1:p.Phe243Leu
ENST00000612012.5:c.685T>C	ENSP00000482070.2:p.Phe229Leu
ENST00000612460.5:c.637T>C	ENSP00000481037.1:p.Phe213Leu
ENST00000614595.2:n.2074T>C
ENST00000615658.5:n.1316T>C
ENST00000616020.5:c.739T>C	ENSP00000483636.2:p.Phe247Leu
ENST00000617701.5:c.*740T>C	ENSP00000481645.1:n.*740T>C
ENST00000651139.1:c.-57T>C	ENSP00000498957.1:n.-57T>C
ENST00000652354.1:c.409T>C	ENSP00000498734.1:p.Phe137Leu
ENST00000652358.1:c.520T>C	ENSP00000498464.1:p.Phe174Leu
ENST00000652390.1:c.646T>C	ENSP00000498858.1:p.Phe216Leu
ENST00000652476.1:n.1393T>C
ENST00000652644.1:c.340T>C	ENSP00000498496.1:p.Phe114Leu
ENST00000652682.1:c.784T>C	ENSP00000498288.1:p.Phe262Leu
ENST00000652685.1:n.1080T>C
ENST00000369776.8:c.637T>C	ENSP00000358791.4:p.Phe213Leu
ENST00000426231.5:c.724T>C
ENST00000475699.5:c.685T>C	ENSP00000419854.2:p.Phe229Leu
ENST00000494912.5:n.1416T>C
ENST00000498029.1:n.185T>C
ENST00000601016.5:c.727T>C	ENSP00000469981.1:p.Phe243Leu
ENST00000612460.4:c.637T>C	ENSP00000481037.1:p.Phe213Leu
ENST00000613002.4:c.595T>C	ENSP00000478154.1:p.Phe199Leu
ENST00000615986.4:c.*455T>C	ENSP00000480133.1:n.*455T>C
NM_000116.4:c.727T>C	NP_000107.1:p.Phe243Leu
NM_001303465.1:c.739T>C	NP_001290394.1:p.Phe247Leu
NM_181311.3:c.637T>C	NP_851828.1:p.Phe213Leu
NM_181312.3:c.685T>C	NP_851829.1:p.Phe229Leu
NM_181313.3:c.595T>C	NP_851830.1:p.Phe199Leu
NR_024048.2:n.1069T>C
XM_006724836.1:c.781T>C	XP_006724899.1:p.Phe261Leu
XM_006724837.1:c.766T>C	XP_006724900.1:p.Phe256Leu
XM_006724839.1:c.649T>C	XP_006724902.1:p.Phe217Leu
XM_006724841.2:c.520T>C	XP_006724904.1:p.Phe174Leu
XM_006724842.2:c.430T>C	XP_006724905.1:p.Phe144Leu
XM_011531189.1:c.568T>C	XP_011529491.1:p.Phe190Leu
XM_011531190.1:c.520T>C	XP_011529492.1:p.Phe174Leu
XM_011531191.1:c.451T>C	XP_011529493.1:p.Phe151Leu
XM_011531192.1:c.448T>C	XP_011529494.1:p.Phe150Leu
XR_938511.1:n.1075T>C
XM_006724841.4:c.520T>C	XP_006724904.1:p.Phe174Leu
XM_006724842.4:c.430T>C	XP_006724905.1:p.Phe144Leu
XM_011531191.2:c.451T>C	XP_011529493.1:p.Phe151Leu
XM_017029761.1:c.712T>C	XP_016885250.1:p.Phe238Leu
XM_017029762.1:c.691T>C	XP_016885251.1:p.Phe231Leu
XM_017029763.1:c.514T>C	XP_016885252.1:p.Phe172Leu
XM_017029764.1:c.448T>C	XP_016885253.1:p.Phe150Leu
XM_017029765.2:c.388T>C	XP_016885254.1:p.Phe130Leu
XM_024452431.1:c.685T>C	XP_024308199.1:p.Phe229Leu
NM_000116.5:c.727T>C MANE Select	NP_000107.1:p.Phe243Leu
NM_001303465.2:c.739T>C	NP_001290394.1:p.Phe247Leu
NM_181311.4:c.637T>C	NP_851828.1:p.Phe213Leu
NM_181312.4:c.685T>C	NP_851829.1:p.Phe229Leu
NM_181313.4:c.595T>C	NP_851830.1:p.Phe199Leu
NR_024048.3:n.1048T>C