Canonical Allele Identifier: CA415185212

Gene: TAFAZZIN

Linked Data

• COSMIC: COSM3681689
• MyVariant Identifiers: chrX:g.153648587T>C (hg19) ; chrX:g.154420248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420248T>C , CM000685.2:g.154420248T>C	GRCh38
NC_000023.10:g.153648587T>C , CM000685.1:g.153648587T>C	GRCh37
NC_000023.9:g.153301781T>C	NCBI36
NG_009634.1:g.13711T>C
NG_009634.2:g.13714T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1493T>C
ENST00000698317.1:n.2109T>C
ENST00000698318.1:n.1892T>C
ENST00000698319.1:n.1255T>C
ENST00000698320.1:n.1143T>C
ENST00000470127.2:n.1156T>C
ENST00000475699.6:c.647T>C	ENSP00000419854.3:p.Phe216Ser
ENST00000483674.3:n.565T>C
ENST00000601016.6:c.683T>C MANE Select	ENSP00000469981.1:p.Phe228Ser
ENST00000612012.5:c.641T>C	ENSP00000482070.2:p.Phe214Ser
ENST00000612460.5:c.593T>C	ENSP00000481037.1:p.Phe198Ser
ENST00000614595.2:n.2030T>C
ENST00000615658.5:n.1272T>C
ENST00000616020.5:c.695T>C	ENSP00000483636.2:p.Phe232Ser
ENST00000617701.5:c.*696T>C	ENSP00000481645.1:n.*696T>C
ENST00000652354.1:c.365T>C	ENSP00000498734.1:p.Phe122Ser
ENST00000652358.1:c.476T>C	ENSP00000498464.1:p.Phe159Ser
ENST00000652390.1:c.602T>C	ENSP00000498858.1:p.Phe201Ser
ENST00000652476.1:n.1349T>C
ENST00000652644.1:c.296T>C	ENSP00000498496.1:p.Phe99Ser
ENST00000652682.1:c.740T>C	ENSP00000498288.1:p.Phe247Ser
ENST00000652685.1:n.1036T>C
ENST00000369776.8:c.593T>C	ENSP00000358791.4:p.Phe198Ser
ENST00000426231.5:c.680T>C
ENST00000475699.5:c.641T>C	ENSP00000419854.2:p.Phe214Ser
ENST00000494912.5:n.1372T>C
ENST00000498029.1:n.141T>C
ENST00000601016.5:c.683T>C	ENSP00000469981.1:p.Phe228Ser
ENST00000612460.4:c.593T>C	ENSP00000481037.1:p.Phe198Ser
ENST00000613002.4:c.551T>C	ENSP00000478154.1:p.Phe184Ser
ENST00000615986.4:c.*411T>C	ENSP00000480133.1:n.*411T>C
NM_000116.4:c.683T>C	NP_000107.1:p.Phe228Ser
NM_001303465.1:c.695T>C	NP_001290394.1:p.Phe232Ser
NM_181311.3:c.593T>C	NP_851828.1:p.Phe198Ser
NM_181312.3:c.641T>C	NP_851829.1:p.Phe214Ser
NM_181313.3:c.551T>C	NP_851830.1:p.Phe184Ser
NR_024048.2:n.1025T>C
XM_006724836.1:c.737T>C	XP_006724899.1:p.Phe246Ser
XM_006724837.1:c.722T>C	XP_006724900.1:p.Phe241Ser
XM_006724839.1:c.605T>C	XP_006724902.1:p.Phe202Ser
XM_006724841.2:c.476T>C	XP_006724904.1:p.Phe159Ser
XM_006724842.2:c.386T>C	XP_006724905.1:p.Phe129Ser
XM_011531189.1:c.524T>C	XP_011529491.1:p.Phe175Ser
XM_011531190.1:c.476T>C	XP_011529492.1:p.Phe159Ser
XM_011531191.1:c.407T>C	XP_011529493.1:p.Phe136Ser
XM_011531192.1:c.404T>C	XP_011529494.1:p.Phe135Ser
XR_938511.1:n.1031T>C
XM_006724841.4:c.476T>C	XP_006724904.1:p.Phe159Ser
XM_006724842.4:c.386T>C	XP_006724905.1:p.Phe129Ser
XM_011531191.2:c.407T>C	XP_011529493.1:p.Phe136Ser
XM_017029761.1:c.668T>C	XP_016885250.1:p.Phe223Ser
XM_017029762.1:c.647T>C	XP_016885251.1:p.Phe216Ser
XM_017029763.1:c.470T>C	XP_016885252.1:p.Phe157Ser
XM_017029764.1:c.404T>C	XP_016885253.1:p.Phe135Ser
XM_017029765.2:c.344T>C	XP_016885254.1:p.Phe115Ser
XM_024452431.1:c.641T>C	XP_024308199.1:p.Phe214Ser
NM_000116.5:c.683T>C MANE Select	NP_000107.1:p.Phe228Ser
NM_001303465.2:c.695T>C	NP_001290394.1:p.Phe232Ser
NM_181311.4:c.593T>C	NP_851828.1:p.Phe198Ser
NM_181312.4:c.641T>C	NP_851829.1:p.Phe214Ser
NM_181313.4:c.551T>C	NP_851830.1:p.Phe184Ser
NR_024048.3:n.1004T>C