Canonical Allele Identifier: CA415184141

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648385A>C (hg19) ; chrX:g.154420046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420046A>C , CM000685.2:g.154420046A>C	GRCh38
NC_000023.10:g.153648385A>C , CM000685.1:g.153648385A>C	GRCh37
NC_000023.9:g.153301579A>C	NCBI36
NG_009634.1:g.13509A>C
NG_009634.2:g.13512A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1408A>C
ENST00000698317.1:n.2024A>C
ENST00000698318.1:n.1807A>C
ENST00000698319.1:n.1170A>C
ENST00000698320.1:n.1058A>C
ENST00000470127.2:n.1071A>C
ENST00000475699.6:c.562A>C	ENSP00000419854.3:p.Ile188Leu
ENST00000483674.3:n.480A>C
ENST00000601016.6:c.598A>C MANE Select	ENSP00000469981.1:p.Ile200Leu
ENST00000612012.5:c.556A>C	ENSP00000482070.2:p.Ile186Leu
ENST00000612460.5:c.508A>C	ENSP00000481037.1:p.Ile170Leu
ENST00000614595.2:n.1945A>C
ENST00000615658.5:n.1187A>C
ENST00000616020.5:c.610A>C	ENSP00000483636.2:p.Ile204Leu
ENST00000617701.5:c.*611A>C	ENSP00000481645.1:n.*611A>C
ENST00000652354.1:c.280A>C	ENSP00000498734.1:p.Ile94Leu
ENST00000652358.1:c.391A>C	ENSP00000498464.1:p.Ile131Leu
ENST00000652390.1:c.517A>C	ENSP00000498858.1:p.Ile173Leu
ENST00000652476.1:n.1264A>C
ENST00000652644.1:c.211A>C	ENSP00000498496.1:p.Ile71Leu
ENST00000652682.1:c.655A>C	ENSP00000498288.1:p.Ile219Leu
ENST00000652685.1:n.951A>C
ENST00000369776.8:c.391A>C	ENSP00000358791.4:p.Ile131Leu
ENST00000426231.5:c.595A>C
ENST00000439735.2:c.505A>C	ENSP00000398193.1:p.Ile169Leu
ENST00000470127.1:n.177A>C
ENST00000475699.5:c.556A>C	ENSP00000419854.2:p.Ile186Leu
ENST00000494912.5:n.1287A>C
ENST00000498029.1:n.56A>C
ENST00000601016.5:c.598A>C	ENSP00000469981.1:p.Ile200Leu
ENST00000612012.4:c.562A>C	ENSP00000482070.1:p.Ile188Leu
ENST00000612460.4:c.508A>C	ENSP00000481037.1:p.Ile170Leu
ENST00000613002.4:c.466A>C	ENSP00000478154.1:p.Ile156Leu
ENST00000615658.4:n.1287A>C
ENST00000615986.4:c.*326A>C	ENSP00000480133.1:n.*326A>C
ENST00000620808.4:c.*184A>C	ENSP00000479311.1:n.*184A>C
NM_000116.4:c.598A>C	NP_000107.1:p.Ile200Leu
NM_001303465.1:c.610A>C	NP_001290394.1:p.Ile204Leu
NM_181311.3:c.508A>C	NP_851828.1:p.Ile170Leu
NM_181312.3:c.556A>C	NP_851829.1:p.Ile186Leu
NM_181313.3:c.466A>C	NP_851830.1:p.Ile156Leu
NR_024048.2:n.940A>C
XM_006724836.1:c.652A>C	XP_006724899.1:p.Ile218Leu
XM_006724837.1:c.520A>C	XP_006724900.1:p.Ile174Leu
XM_006724839.1:c.520A>C	XP_006724902.1:p.Ile174Leu
XM_006724841.2:c.391A>C	XP_006724904.1:p.Ile131Leu
XM_006724842.2:c.301A>C	XP_006724905.1:p.Ile101Leu
XM_011531189.1:c.439A>C	XP_011529491.1:p.Ile147Leu
XM_011531190.1:c.391A>C	XP_011529492.1:p.Ile131Leu
XM_011531191.1:c.322A>C	XP_011529493.1:p.Ile108Leu
XM_011531192.1:c.319A>C	XP_011529494.1:p.Ile107Leu
XR_938511.1:n.946A>C
XM_006724841.4:c.391A>C	XP_006724904.1:p.Ile131Leu
XM_006724842.4:c.301A>C	XP_006724905.1:p.Ile101Leu
XM_011531191.2:c.322A>C	XP_011529493.1:p.Ile108Leu
XM_017029761.1:c.466A>C	XP_016885250.1:p.Ile156Leu
XM_017029762.1:c.562A>C	XP_016885251.1:p.Ile188Leu
XM_017029763.1:c.385A>C	XP_016885252.1:p.Ile129Leu
XM_017029764.1:c.319A>C	XP_016885253.1:p.Ile107Leu
XM_017029765.2:c.259A>C	XP_016885254.1:p.Ile87Leu
XM_024452431.1:c.439A>C	XP_024308199.1:p.Ile147Leu
NM_000116.5:c.598A>C MANE Select	NP_000107.1:p.Ile200Leu
NM_001303465.2:c.610A>C	NP_001290394.1:p.Ile204Leu
NM_181311.4:c.508A>C	NP_851828.1:p.Ile170Leu
NM_181312.4:c.556A>C	NP_851829.1:p.Ile186Leu
NM_181313.4:c.466A>C	NP_851830.1:p.Ile156Leu
NR_024048.3:n.919A>C