Canonical Allele Identifier: CA261290

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 42269
• ClinVar RCV Id: RCV000035102 ; RCV003236772
• dbSNP Id: rs397515750
• MyVariant Identifiers: chrX:g.153649287C>T (hg19) ; chrX:g.154420948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420948C>T , CM000685.2:g.154420948C>T	GRCh38
NC_000023.10:g.153649287C>T , CM000685.1:g.153649287C>T	GRCh37
NC_000023.9:g.153302481C>T	NCBI36
NG_009634.1:g.14411C>T
NG_009634.2:g.14414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1633C>T
ENST00000698317.1:n.2249C>T
ENST00000698318.1:n.2032C>T
ENST00000698319.1:n.1395C>T
ENST00000698320.1:n.1450C>T
ENST00000470127.2:n.1296C>T
ENST00000475699.6:c.787C>T	ENSP00000419854.3:p.Gln263Ter
ENST00000483674.3:n.705C>T
ENST00000601016.6:c.823C>T MANE Select	ENSP00000469981.1:p.Gln275Ter
ENST00000612012.5:c.781C>T	ENSP00000482070.2:p.Gln261Ter
ENST00000612460.5:c.733C>T	ENSP00000481037.1:p.Gln245Ter
ENST00000614595.2:n.2170C>T
ENST00000615658.5:n.1412C>T
ENST00000616020.5:c.835C>T	ENSP00000483636.2:p.Gln279Ter
ENST00000617701.5:c.*836C>T	ENSP00000481645.1:n.*836C>T
ENST00000651139.1:c.40C>T	ENSP00000498957.1:p.Gln14Ter
ENST00000652354.1:c.505C>T	ENSP00000498734.1:p.Gln169Ter
ENST00000652358.1:c.616C>T	ENSP00000498464.1:p.Gln206Ter
ENST00000652390.1:c.742C>T	ENSP00000498858.1:p.Gln248Ter
ENST00000652476.1:n.1489C>T
ENST00000652644.1:c.436C>T	ENSP00000498496.1:p.Gln146Ter
ENST00000652682.1:c.880C>T	ENSP00000498288.1:p.Gln294Ter
ENST00000652685.1:n.1176C>T
ENST00000369776.8:c.733C>T	ENSP00000358791.4:p.Gln245Ter
ENST00000426231.5:c.820C>T
ENST00000475699.5:c.781C>T	ENSP00000419854.2:p.Gln261Ter
ENST00000494912.5:n.1512C>T
ENST00000498029.1:n.281C>T
ENST00000601016.5:c.823C>T	ENSP00000469981.1:p.Gln275Ter
ENST00000612460.4:c.733C>T	ENSP00000481037.1:p.Gln245Ter
ENST00000613002.4:c.691C>T	ENSP00000478154.1:p.Gln231Ter
ENST00000615986.4:c.*551C>T	ENSP00000480133.1:n.*551C>T
NM_000116.4:c.823C>T	NP_000107.1:p.Gln275Ter
NM_001303465.1:c.835C>T	NP_001290394.1:p.Gln279Ter
NM_181311.3:c.733C>T	NP_851828.1:p.Gln245Ter
NM_181312.3:c.781C>T	NP_851829.1:p.Gln261Ter
NM_181313.3:c.691C>T	NP_851830.1:p.Gln231Ter
NR_024048.2:n.1165C>T
XM_006724836.1:c.877C>T	XP_006724899.1:p.Gln293Ter
XM_006724837.1:c.862C>T	XP_006724900.1:p.Gln288Ter
XM_006724839.1:c.745C>T	XP_006724902.1:p.Gln249Ter
XM_006724841.2:c.616C>T	XP_006724904.1:p.Gln206Ter
XM_006724842.2:c.526C>T	XP_006724905.1:p.Gln176Ter
XM_011531189.1:c.664C>T	XP_011529491.1:p.Gln222Ter
XM_011531190.1:c.616C>T	XP_011529492.1:p.Gln206Ter
XM_011531191.1:c.547C>T	XP_011529493.1:p.Gln183Ter
XM_011531192.1:c.544C>T	XP_011529494.1:p.Gln182Ter
XR_938511.1:n.1171C>T
XM_006724841.4:c.616C>T	XP_006724904.1:p.Gln206Ter
XM_006724842.4:c.526C>T	XP_006724905.1:p.Gln176Ter
XM_011531191.2:c.547C>T	XP_011529493.1:p.Gln183Ter
XM_017029761.1:c.808C>T	XP_016885250.1:p.Gln270Ter
XM_017029762.1:c.787C>T	XP_016885251.1:p.Gln263Ter
XM_017029763.1:c.610C>T	XP_016885252.1:p.Gln204Ter
XM_017029764.1:c.544C>T	XP_016885253.1:p.Gln182Ter
XM_017029765.2:c.484C>T	XP_016885254.1:p.Gln162Ter
XM_024452431.1:c.781C>T	XP_024308199.1:p.Gln261Ter
NM_000116.5:c.823C>T MANE Select	NP_000107.1:p.Gln275Ter
NM_001303465.2:c.835C>T	NP_001290394.1:p.Gln279Ter
NM_181311.4:c.733C>T	NP_851828.1:p.Gln245Ter
NM_181312.4:c.781C>T	NP_851829.1:p.Gln261Ter
NM_181313.4:c.691C>T	NP_851830.1:p.Gln231Ter
NR_024048.3:n.1144C>T