Canonical Allele Identifier: CA415184134

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648383T>C (hg19) ; chrX:g.154420044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420044T>C , CM000685.2:g.154420044T>C	GRCh38
NC_000023.10:g.153648383T>C , CM000685.1:g.153648383T>C	GRCh37
NC_000023.9:g.153301577T>C	NCBI36
NG_009634.1:g.13507T>C
NG_009634.2:g.13510T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1406T>C
ENST00000698317.1:n.2022T>C
ENST00000698318.1:n.1805T>C
ENST00000698319.1:n.1168T>C
ENST00000698320.1:n.1056T>C
ENST00000470127.2:n.1069T>C
ENST00000475699.6:c.560T>C	ENSP00000419854.3:p.Leu187Pro
ENST00000483674.3:n.478T>C
ENST00000601016.6:c.596T>C MANE Select	ENSP00000469981.1:p.Leu199Pro
ENST00000612012.5:c.554T>C	ENSP00000482070.2:p.Leu185Pro
ENST00000612460.5:c.506T>C	ENSP00000481037.1:p.Leu169Pro
ENST00000614595.2:n.1943T>C
ENST00000615658.5:n.1185T>C
ENST00000616020.5:c.608T>C	ENSP00000483636.2:p.Leu203Pro
ENST00000617701.5:c.*609T>C	ENSP00000481645.1:n.*609T>C
ENST00000652354.1:c.278T>C	ENSP00000498734.1:p.Leu93Pro
ENST00000652358.1:c.389T>C	ENSP00000498464.1:p.Leu130Pro
ENST00000652390.1:c.515T>C	ENSP00000498858.1:p.Leu172Pro
ENST00000652476.1:n.1262T>C
ENST00000652644.1:c.209T>C	ENSP00000498496.1:p.Leu70Pro
ENST00000652682.1:c.653T>C	ENSP00000498288.1:p.Leu218Pro
ENST00000652685.1:n.949T>C
ENST00000369776.8:c.389T>C	ENSP00000358791.4:p.Leu130Pro
ENST00000426231.5:c.593T>C
ENST00000439735.2:c.503T>C	ENSP00000398193.1:p.Leu168Pro
ENST00000470127.1:n.175T>C
ENST00000475699.5:c.554T>C	ENSP00000419854.2:p.Leu185Pro
ENST00000494912.5:n.1285T>C
ENST00000498029.1:n.54T>C
ENST00000601016.5:c.596T>C	ENSP00000469981.1:p.Leu199Pro
ENST00000612012.4:c.560T>C	ENSP00000482070.1:p.Leu187Pro
ENST00000612460.4:c.506T>C	ENSP00000481037.1:p.Leu169Pro
ENST00000613002.4:c.464T>C	ENSP00000478154.1:p.Leu155Pro
ENST00000615658.4:n.1285T>C
ENST00000615986.4:c.*324T>C	ENSP00000480133.1:n.*324T>C
ENST00000620808.4:c.*182T>C	ENSP00000479311.1:n.*182T>C
NM_000116.4:c.596T>C	NP_000107.1:p.Leu199Pro
NM_001303465.1:c.608T>C	NP_001290394.1:p.Leu203Pro
NM_181311.3:c.506T>C	NP_851828.1:p.Leu169Pro
NM_181312.3:c.554T>C	NP_851829.1:p.Leu185Pro
NM_181313.3:c.464T>C	NP_851830.1:p.Leu155Pro
NR_024048.2:n.938T>C
XM_006724836.1:c.650T>C	XP_006724899.1:p.Leu217Pro
XM_006724837.1:c.518T>C	XP_006724900.1:p.Leu173Pro
XM_006724839.1:c.518T>C	XP_006724902.1:p.Leu173Pro
XM_006724841.2:c.389T>C	XP_006724904.1:p.Leu130Pro
XM_006724842.2:c.299T>C	XP_006724905.1:p.Leu100Pro
XM_011531189.1:c.437T>C	XP_011529491.1:p.Leu146Pro
XM_011531190.1:c.389T>C	XP_011529492.1:p.Leu130Pro
XM_011531191.1:c.320T>C	XP_011529493.1:p.Leu107Pro
XM_011531192.1:c.317T>C	XP_011529494.1:p.Leu106Pro
XR_938511.1:n.944T>C
XM_006724841.4:c.389T>C	XP_006724904.1:p.Leu130Pro
XM_006724842.4:c.299T>C	XP_006724905.1:p.Leu100Pro
XM_011531191.2:c.320T>C	XP_011529493.1:p.Leu107Pro
XM_017029761.1:c.464T>C	XP_016885250.1:p.Leu155Pro
XM_017029762.1:c.560T>C	XP_016885251.1:p.Leu187Pro
XM_017029763.1:c.383T>C	XP_016885252.1:p.Leu128Pro
XM_017029764.1:c.317T>C	XP_016885253.1:p.Leu106Pro
XM_017029765.2:c.257T>C	XP_016885254.1:p.Leu86Pro
XM_024452431.1:c.437T>C	XP_024308199.1:p.Leu146Pro
NM_000116.5:c.596T>C MANE Select	NP_000107.1:p.Leu199Pro
NM_001303465.2:c.608T>C	NP_001290394.1:p.Leu203Pro
NM_181311.4:c.506T>C	NP_851828.1:p.Leu169Pro
NM_181312.4:c.554T>C	NP_851829.1:p.Leu185Pro
NM_181313.4:c.464T>C	NP_851830.1:p.Leu155Pro
NR_024048.3:n.917T>C