Canonical Allele Identifier: CA415185396

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2033301
• ClinVar RCV Id: RCV002872271
• MyVariant Identifiers: chrX:g.153649024T>A (hg19) ; chrX:g.154420685T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1537T>A
ENST00000698317.1:n.2153T>A
ENST00000698318.1:n.1936T>A
ENST00000698319.1:n.1299T>A
ENST00000698320.1:n.1187T>A
ENST00000470127.2:n.1200T>A
ENST00000475699.6:c.691T>A	ENSP00000419854.3:p.Phe231Ile
ENST00000483674.3:n.609T>A
ENST00000601016.6:c.727T>A MANE Select	ENSP00000469981.1:p.Phe243Ile
ENST00000612012.5:c.685T>A	ENSP00000482070.2:p.Phe229Ile
ENST00000612460.5:c.637T>A	ENSP00000481037.1:p.Phe213Ile
ENST00000614595.2:n.2074T>A
ENST00000615658.5:n.1316T>A
ENST00000616020.5:c.739T>A	ENSP00000483636.2:p.Phe247Ile
ENST00000617701.5:c.*740T>A	ENSP00000481645.1:n.*740T>A
ENST00000651139.1:c.-57T>A	ENSP00000498957.1:n.-57T>A
ENST00000652354.1:c.409T>A	ENSP00000498734.1:p.Phe137Ile
ENST00000652358.1:c.520T>A	ENSP00000498464.1:p.Phe174Ile
ENST00000652390.1:c.646T>A	ENSP00000498858.1:p.Phe216Ile
ENST00000652476.1:n.1393T>A
ENST00000652644.1:c.340T>A	ENSP00000498496.1:p.Phe114Ile
ENST00000652682.1:c.784T>A	ENSP00000498288.1:p.Phe262Ile
ENST00000652685.1:n.1080T>A
ENST00000369776.8:c.637T>A	ENSP00000358791.4:p.Phe213Ile
ENST00000426231.5:c.724T>A
ENST00000475699.5:c.685T>A	ENSP00000419854.2:p.Phe229Ile
ENST00000494912.5:n.1416T>A
ENST00000498029.1:n.185T>A
ENST00000601016.5:c.727T>A	ENSP00000469981.1:p.Phe243Ile
ENST00000612460.4:c.637T>A	ENSP00000481037.1:p.Phe213Ile
ENST00000613002.4:c.595T>A	ENSP00000478154.1:p.Phe199Ile
ENST00000615986.4:c.*455T>A	ENSP00000480133.1:n.*455T>A
NM_000116.4:c.727T>A	NP_000107.1:p.Phe243Ile
NM_001303465.1:c.739T>A	NP_001290394.1:p.Phe247Ile
NM_181311.3:c.637T>A	NP_851828.1:p.Phe213Ile
NM_181312.3:c.685T>A	NP_851829.1:p.Phe229Ile
NM_181313.3:c.595T>A	NP_851830.1:p.Phe199Ile
NR_024048.2:n.1069T>A
XM_006724836.1:c.781T>A	XP_006724899.1:p.Phe261Ile
XM_006724837.1:c.766T>A	XP_006724900.1:p.Phe256Ile
XM_006724839.1:c.649T>A	XP_006724902.1:p.Phe217Ile
XM_006724841.2:c.520T>A	XP_006724904.1:p.Phe174Ile
XM_006724842.2:c.430T>A	XP_006724905.1:p.Phe144Ile
XM_011531189.1:c.568T>A	XP_011529491.1:p.Phe190Ile
XM_011531190.1:c.520T>A	XP_011529492.1:p.Phe174Ile
XM_011531191.1:c.451T>A	XP_011529493.1:p.Phe151Ile
XM_011531192.1:c.448T>A	XP_011529494.1:p.Phe150Ile
XR_938511.1:n.1075T>A
XM_006724841.4:c.520T>A	XP_006724904.1:p.Phe174Ile
XM_006724842.4:c.430T>A	XP_006724905.1:p.Phe144Ile
XM_011531191.2:c.451T>A	XP_011529493.1:p.Phe151Ile
XM_017029761.1:c.712T>A	XP_016885250.1:p.Phe238Ile
XM_017029762.1:c.691T>A	XP_016885251.1:p.Phe231Ile
XM_017029763.1:c.514T>A	XP_016885252.1:p.Phe172Ile
XM_017029764.1:c.448T>A	XP_016885253.1:p.Phe150Ile
XM_017029765.2:c.388T>A	XP_016885254.1:p.Phe130Ile
XM_024452431.1:c.685T>A	XP_024308199.1:p.Phe229Ile
NM_000116.5:c.727T>A MANE Select	NP_000107.1:p.Phe243Ile
NM_001303465.2:c.739T>A	NP_001290394.1:p.Phe247Ile
NM_181311.4:c.637T>A	NP_851828.1:p.Phe213Ile
NM_181312.4:c.685T>A	NP_851829.1:p.Phe229Ile
NM_181313.4:c.595T>A	NP_851830.1:p.Phe199Ile
NR_024048.3:n.1048T>A