Canonical Allele Identifier: CA415184156

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648387T>G (hg19) ; chrX:g.154420048T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420048T>G , CM000685.2:g.154420048T>G	GRCh38
NC_000023.10:g.153648387T>G , CM000685.1:g.153648387T>G	GRCh37
NC_000023.9:g.153301581T>G	NCBI36
NG_009634.1:g.13511T>G
NG_009634.2:g.13514T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1410T>G
ENST00000698317.1:n.2026T>G
ENST00000698318.1:n.1809T>G
ENST00000698319.1:n.1172T>G
ENST00000698320.1:n.1060T>G
ENST00000470127.2:n.1073T>G
ENST00000475699.6:c.564T>G	ENSP00000419854.3:p.Ile188Met
ENST00000483674.3:n.482T>G
ENST00000601016.6:c.600T>G MANE Select	ENSP00000469981.1:p.Ile200Met
ENST00000612012.5:c.558T>G	ENSP00000482070.2:p.Ile186Met
ENST00000612460.5:c.510T>G	ENSP00000481037.1:p.Ile170Met
ENST00000614595.2:n.1947T>G
ENST00000615658.5:n.1189T>G
ENST00000616020.5:c.612T>G	ENSP00000483636.2:p.Ile204Met
ENST00000617701.5:c.*613T>G	ENSP00000481645.1:n.*613T>G
ENST00000652354.1:c.282T>G	ENSP00000498734.1:p.Ile94Met
ENST00000652358.1:c.393T>G	ENSP00000498464.1:p.Ile131Met
ENST00000652390.1:c.519T>G	ENSP00000498858.1:p.Ile173Met
ENST00000652476.1:n.1266T>G
ENST00000652644.1:c.213T>G	ENSP00000498496.1:p.Ile71Met
ENST00000652682.1:c.657T>G	ENSP00000498288.1:p.Ile219Met
ENST00000652685.1:n.953T>G
ENST00000369776.8:c.393T>G	ENSP00000358791.4:p.Ile131Met
ENST00000426231.5:c.597T>G
ENST00000439735.2:c.507T>G	ENSP00000398193.1:p.Ile169Met
ENST00000470127.1:n.179T>G
ENST00000475699.5:c.558T>G	ENSP00000419854.2:p.Ile186Met
ENST00000494912.5:n.1289T>G
ENST00000498029.1:n.58T>G
ENST00000601016.5:c.600T>G	ENSP00000469981.1:p.Ile200Met
ENST00000612012.4:c.564T>G	ENSP00000482070.1:p.Ile188Met
ENST00000612460.4:c.510T>G	ENSP00000481037.1:p.Ile170Met
ENST00000613002.4:c.468T>G	ENSP00000478154.1:p.Ile156Met
ENST00000615658.4:n.1289T>G
ENST00000615986.4:c.*328T>G	ENSP00000480133.1:n.*328T>G
ENST00000620808.4:c.*186T>G	ENSP00000479311.1:n.*186T>G
NM_000116.4:c.600T>G	NP_000107.1:p.Ile200Met
NM_001303465.1:c.612T>G	NP_001290394.1:p.Ile204Met
NM_181311.3:c.510T>G	NP_851828.1:p.Ile170Met
NM_181312.3:c.558T>G	NP_851829.1:p.Ile186Met
NM_181313.3:c.468T>G	NP_851830.1:p.Ile156Met
NR_024048.2:n.942T>G
XM_006724836.1:c.654T>G	XP_006724899.1:p.Ile218Met
XM_006724837.1:c.522T>G	XP_006724900.1:p.Ile174Met
XM_006724839.1:c.522T>G	XP_006724902.1:p.Ile174Met
XM_006724841.2:c.393T>G	XP_006724904.1:p.Ile131Met
XM_006724842.2:c.303T>G	XP_006724905.1:p.Ile101Met
XM_011531189.1:c.441T>G	XP_011529491.1:p.Ile147Met
XM_011531190.1:c.393T>G	XP_011529492.1:p.Ile131Met
XM_011531191.1:c.324T>G	XP_011529493.1:p.Ile108Met
XM_011531192.1:c.321T>G	XP_011529494.1:p.Ile107Met
XR_938511.1:n.948T>G
XM_006724841.4:c.393T>G	XP_006724904.1:p.Ile131Met
XM_006724842.4:c.303T>G	XP_006724905.1:p.Ile101Met
XM_011531191.2:c.324T>G	XP_011529493.1:p.Ile108Met
XM_017029761.1:c.468T>G	XP_016885250.1:p.Ile156Met
XM_017029762.1:c.564T>G	XP_016885251.1:p.Ile188Met
XM_017029763.1:c.387T>G	XP_016885252.1:p.Ile129Met
XM_017029764.1:c.321T>G	XP_016885253.1:p.Ile107Met
XM_017029765.2:c.261T>G	XP_016885254.1:p.Ile87Met
XM_024452431.1:c.441T>G	XP_024308199.1:p.Ile147Met
NM_000116.5:c.600T>G MANE Select	NP_000107.1:p.Ile200Met
NM_001303465.2:c.612T>G	NP_001290394.1:p.Ile204Met
NM_181311.4:c.510T>G	NP_851828.1:p.Ile170Met
NM_181312.4:c.558T>G	NP_851829.1:p.Ile186Met
NM_181313.4:c.468T>G	NP_851830.1:p.Ile156Met
NR_024048.3:n.921T>G