Canonical Allele Identifier: CA415185372

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649013T>G (hg19) ; chrX:g.154420674T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420674T>G , CM000685.2:g.154420674T>G	GRCh38
NC_000023.10:g.153649013T>G , CM000685.1:g.153649013T>G	GRCh37
NC_000023.9:g.153302207T>G	NCBI36
NG_009634.1:g.14137T>G
NG_009634.2:g.14140T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1526T>G
ENST00000698317.1:n.2142T>G
ENST00000698318.1:n.1925T>G
ENST00000698319.1:n.1288T>G
ENST00000698320.1:n.1176T>G
ENST00000470127.2:n.1189T>G
ENST00000475699.6:c.680T>G	ENSP00000419854.3:p.Ile227Ser
ENST00000483674.3:n.598T>G
ENST00000601016.6:c.716T>G MANE Select	ENSP00000469981.1:p.Ile239Ser
ENST00000612012.5:c.674T>G	ENSP00000482070.2:p.Ile225Ser
ENST00000612460.5:c.626T>G	ENSP00000481037.1:p.Ile209Ser
ENST00000614595.2:n.2063T>G
ENST00000615658.5:n.1305T>G
ENST00000616020.5:c.728T>G	ENSP00000483636.2:p.Ile243Ser
ENST00000617701.5:c.*729T>G	ENSP00000481645.1:n.*729T>G
ENST00000651139.1:c.-68T>G	ENSP00000498957.1:n.-68T>G
ENST00000652354.1:c.398T>G	ENSP00000498734.1:p.Ile133Ser
ENST00000652358.1:c.509T>G	ENSP00000498464.1:p.Ile170Ser
ENST00000652390.1:c.635T>G	ENSP00000498858.1:p.Ile212Ser
ENST00000652476.1:n.1382T>G
ENST00000652644.1:c.329T>G	ENSP00000498496.1:p.Ile110Ser
ENST00000652682.1:c.773T>G	ENSP00000498288.1:p.Ile258Ser
ENST00000652685.1:n.1069T>G
ENST00000369776.8:c.626T>G	ENSP00000358791.4:p.Ile209Ser
ENST00000426231.5:c.713T>G
ENST00000475699.5:c.674T>G	ENSP00000419854.2:p.Ile225Ser
ENST00000494912.5:n.1405T>G
ENST00000498029.1:n.174T>G
ENST00000601016.5:c.716T>G	ENSP00000469981.1:p.Ile239Ser
ENST00000612460.4:c.626T>G	ENSP00000481037.1:p.Ile209Ser
ENST00000613002.4:c.584T>G	ENSP00000478154.1:p.Ile195Ser
ENST00000615986.4:c.*444T>G	ENSP00000480133.1:n.*444T>G
NM_000116.4:c.716T>G	NP_000107.1:p.Ile239Ser
NM_001303465.1:c.728T>G	NP_001290394.1:p.Ile243Ser
NM_181311.3:c.626T>G	NP_851828.1:p.Ile209Ser
NM_181312.3:c.674T>G	NP_851829.1:p.Ile225Ser
NM_181313.3:c.584T>G	NP_851830.1:p.Ile195Ser
NR_024048.2:n.1058T>G
XM_006724836.1:c.770T>G	XP_006724899.1:p.Ile257Ser
XM_006724837.1:c.755T>G	XP_006724900.1:p.Ile252Ser
XM_006724839.1:c.638T>G	XP_006724902.1:p.Ile213Ser
XM_006724841.2:c.509T>G	XP_006724904.1:p.Ile170Ser
XM_006724842.2:c.419T>G	XP_006724905.1:p.Ile140Ser
XM_011531189.1:c.557T>G	XP_011529491.1:p.Ile186Ser
XM_011531190.1:c.509T>G	XP_011529492.1:p.Ile170Ser
XM_011531191.1:c.440T>G	XP_011529493.1:p.Ile147Ser
XM_011531192.1:c.437T>G	XP_011529494.1:p.Ile146Ser
XR_938511.1:n.1064T>G
XM_006724841.4:c.509T>G	XP_006724904.1:p.Ile170Ser
XM_006724842.4:c.419T>G	XP_006724905.1:p.Ile140Ser
XM_011531191.2:c.440T>G	XP_011529493.1:p.Ile147Ser
XM_017029761.1:c.701T>G	XP_016885250.1:p.Ile234Ser
XM_017029762.1:c.680T>G	XP_016885251.1:p.Ile227Ser
XM_017029763.1:c.503T>G	XP_016885252.1:p.Ile168Ser
XM_017029764.1:c.437T>G	XP_016885253.1:p.Ile146Ser
XM_017029765.2:c.377T>G	XP_016885254.1:p.Ile126Ser
XM_024452431.1:c.674T>G	XP_024308199.1:p.Ile225Ser
NM_000116.5:c.716T>G MANE Select	NP_000107.1:p.Ile239Ser
NM_001303465.2:c.728T>G	NP_001290394.1:p.Ile243Ser
NM_181311.4:c.626T>G	NP_851828.1:p.Ile209Ser
NM_181312.4:c.674T>G	NP_851829.1:p.Ile225Ser
NM_181313.4:c.584T>G	NP_851830.1:p.Ile195Ser
NR_024048.3:n.1037T>G