Canonical Allele Identifier: CA415184130

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648382C>G (hg19) ; chrX:g.154420043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420043C>G , CM000685.2:g.154420043C>G	GRCh38
NC_000023.10:g.153648382C>G , CM000685.1:g.153648382C>G	GRCh37
NC_000023.9:g.153301576C>G	NCBI36
NG_009634.1:g.13506C>G
NG_009634.2:g.13509C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1405C>G
ENST00000698317.1:n.2021C>G
ENST00000698318.1:n.1804C>G
ENST00000698319.1:n.1167C>G
ENST00000698320.1:n.1055C>G
ENST00000470127.2:n.1068C>G
ENST00000475699.6:c.559C>G	ENSP00000419854.3:p.Leu187Val
ENST00000483674.3:n.477C>G
ENST00000601016.6:c.595C>G MANE Select	ENSP00000469981.1:p.Leu199Val
ENST00000612012.5:c.553C>G	ENSP00000482070.2:p.Leu185Val
ENST00000612460.5:c.505C>G	ENSP00000481037.1:p.Leu169Val
ENST00000614595.2:n.1942C>G
ENST00000615658.5:n.1184C>G
ENST00000616020.5:c.607C>G	ENSP00000483636.2:p.Leu203Val
ENST00000617701.5:c.*608C>G	ENSP00000481645.1:n.*608C>G
ENST00000652354.1:c.277C>G	ENSP00000498734.1:p.Leu93Val
ENST00000652358.1:c.388C>G	ENSP00000498464.1:p.Leu130Val
ENST00000652390.1:c.514C>G	ENSP00000498858.1:p.Leu172Val
ENST00000652476.1:n.1261C>G
ENST00000652644.1:c.208C>G	ENSP00000498496.1:p.Leu70Val
ENST00000652682.1:c.652C>G	ENSP00000498288.1:p.Leu218Val
ENST00000652685.1:n.948C>G
ENST00000369776.8:c.388C>G	ENSP00000358791.4:p.Leu130Val
ENST00000426231.5:c.592C>G
ENST00000439735.2:c.502C>G	ENSP00000398193.1:p.Leu168Val
ENST00000470127.1:n.174C>G
ENST00000475699.5:c.553C>G	ENSP00000419854.2:p.Leu185Val
ENST00000494912.5:n.1284C>G
ENST00000498029.1:n.53C>G
ENST00000601016.5:c.595C>G	ENSP00000469981.1:p.Leu199Val
ENST00000612012.4:c.559C>G	ENSP00000482070.1:p.Leu187Val
ENST00000612460.4:c.505C>G	ENSP00000481037.1:p.Leu169Val
ENST00000613002.4:c.463C>G	ENSP00000478154.1:p.Leu155Val
ENST00000615658.4:n.1284C>G
ENST00000615986.4:c.*323C>G	ENSP00000480133.1:n.*323C>G
ENST00000620808.4:c.*181C>G	ENSP00000479311.1:n.*181C>G
NM_000116.4:c.595C>G	NP_000107.1:p.Leu199Val
NM_001303465.1:c.607C>G	NP_001290394.1:p.Leu203Val
NM_181311.3:c.505C>G	NP_851828.1:p.Leu169Val
NM_181312.3:c.553C>G	NP_851829.1:p.Leu185Val
NM_181313.3:c.463C>G	NP_851830.1:p.Leu155Val
NR_024048.2:n.937C>G
XM_006724836.1:c.649C>G	XP_006724899.1:p.Leu217Val
XM_006724837.1:c.517C>G	XP_006724900.1:p.Leu173Val
XM_006724839.1:c.517C>G	XP_006724902.1:p.Leu173Val
XM_006724841.2:c.388C>G	XP_006724904.1:p.Leu130Val
XM_006724842.2:c.298C>G	XP_006724905.1:p.Leu100Val
XM_011531189.1:c.436C>G	XP_011529491.1:p.Leu146Val
XM_011531190.1:c.388C>G	XP_011529492.1:p.Leu130Val
XM_011531191.1:c.319C>G	XP_011529493.1:p.Leu107Val
XM_011531192.1:c.316C>G	XP_011529494.1:p.Leu106Val
XR_938511.1:n.943C>G
XM_006724841.4:c.388C>G	XP_006724904.1:p.Leu130Val
XM_006724842.4:c.298C>G	XP_006724905.1:p.Leu100Val
XM_011531191.2:c.319C>G	XP_011529493.1:p.Leu107Val
XM_017029761.1:c.463C>G	XP_016885250.1:p.Leu155Val
XM_017029762.1:c.559C>G	XP_016885251.1:p.Leu187Val
XM_017029763.1:c.382C>G	XP_016885252.1:p.Leu128Val
XM_017029764.1:c.316C>G	XP_016885253.1:p.Leu106Val
XM_017029765.2:c.256C>G	XP_016885254.1:p.Leu86Val
XM_024452431.1:c.436C>G	XP_024308199.1:p.Leu146Val
NM_000116.5:c.595C>G MANE Select	NP_000107.1:p.Leu199Val
NM_001303465.2:c.607C>G	NP_001290394.1:p.Leu203Val
NM_181311.4:c.505C>G	NP_851828.1:p.Leu169Val
NM_181312.4:c.553C>G	NP_851829.1:p.Leu185Val
NM_181313.4:c.463C>G	NP_851830.1:p.Leu155Val
NR_024048.3:n.916C>G