Canonical Allele Identifier: CA415185349

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649006G>T (hg19) ; chrX:g.154420667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420667G>T , CM000685.2:g.154420667G>T	GRCh38
NC_000023.10:g.153649006G>T , CM000685.1:g.153649006G>T	GRCh37
NC_000023.9:g.153302200G>T	NCBI36
NG_009634.1:g.14130G>T
NG_009634.2:g.14133G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1519G>T
ENST00000698317.1:n.2135G>T
ENST00000698318.1:n.1918G>T
ENST00000698319.1:n.1281G>T
ENST00000698320.1:n.1169G>T
ENST00000470127.2:n.1182G>T
ENST00000475699.6:c.673G>T	ENSP00000419854.3:p.Val225Leu
ENST00000483674.3:n.591G>T
ENST00000601016.6:c.709G>T MANE Select	ENSP00000469981.1:p.Val237Leu
ENST00000612012.5:c.667G>T	ENSP00000482070.2:p.Val223Leu
ENST00000612460.5:c.619G>T	ENSP00000481037.1:p.Val207Leu
ENST00000614595.2:n.2056G>T
ENST00000615658.5:n.1298G>T
ENST00000616020.5:c.721G>T	ENSP00000483636.2:p.Val241Leu
ENST00000617701.5:c.*722G>T	ENSP00000481645.1:n.*722G>T
ENST00000651139.1:c.-75G>T	ENSP00000498957.1:n.-75G>T
ENST00000652354.1:c.391G>T	ENSP00000498734.1:p.Val131Leu
ENST00000652358.1:c.502G>T	ENSP00000498464.1:p.Val168Leu
ENST00000652390.1:c.628G>T	ENSP00000498858.1:p.Val210Leu
ENST00000652476.1:n.1375G>T
ENST00000652644.1:c.322G>T	ENSP00000498496.1:p.Val108Leu
ENST00000652682.1:c.766G>T	ENSP00000498288.1:p.Val256Leu
ENST00000652685.1:n.1062G>T
ENST00000369776.8:c.619G>T	ENSP00000358791.4:p.Val207Leu
ENST00000426231.5:c.706G>T
ENST00000475699.5:c.667G>T	ENSP00000419854.2:p.Val223Leu
ENST00000494912.5:n.1398G>T
ENST00000498029.1:n.167G>T
ENST00000601016.5:c.709G>T	ENSP00000469981.1:p.Val237Leu
ENST00000612460.4:c.619G>T	ENSP00000481037.1:p.Val207Leu
ENST00000613002.4:c.577G>T	ENSP00000478154.1:p.Val193Leu
ENST00000615986.4:c.*437G>T	ENSP00000480133.1:n.*437G>T
NM_000116.4:c.709G>T	NP_000107.1:p.Val237Leu
NM_001303465.1:c.721G>T	NP_001290394.1:p.Val241Leu
NM_181311.3:c.619G>T	NP_851828.1:p.Val207Leu
NM_181312.3:c.667G>T	NP_851829.1:p.Val223Leu
NM_181313.3:c.577G>T	NP_851830.1:p.Val193Leu
NR_024048.2:n.1051G>T
XM_006724836.1:c.763G>T	XP_006724899.1:p.Val255Leu
XM_006724837.1:c.748G>T	XP_006724900.1:p.Val250Leu
XM_006724839.1:c.631G>T	XP_006724902.1:p.Val211Leu
XM_006724841.2:c.502G>T	XP_006724904.1:p.Val168Leu
XM_006724842.2:c.412G>T	XP_006724905.1:p.Val138Leu
XM_011531189.1:c.550G>T	XP_011529491.1:p.Val184Leu
XM_011531190.1:c.502G>T	XP_011529492.1:p.Val168Leu
XM_011531191.1:c.433G>T	XP_011529493.1:p.Val145Leu
XM_011531192.1:c.430G>T	XP_011529494.1:p.Val144Leu
XR_938511.1:n.1057G>T
XM_006724841.4:c.502G>T	XP_006724904.1:p.Val168Leu
XM_006724842.4:c.412G>T	XP_006724905.1:p.Val138Leu
XM_011531191.2:c.433G>T	XP_011529493.1:p.Val145Leu
XM_017029761.1:c.694G>T	XP_016885250.1:p.Val232Leu
XM_017029762.1:c.673G>T	XP_016885251.1:p.Val225Leu
XM_017029763.1:c.496G>T	XP_016885252.1:p.Val166Leu
XM_017029764.1:c.430G>T	XP_016885253.1:p.Val144Leu
XM_017029765.2:c.370G>T	XP_016885254.1:p.Val124Leu
XM_024452431.1:c.667G>T	XP_024308199.1:p.Val223Leu
NM_000116.5:c.709G>T MANE Select	NP_000107.1:p.Val237Leu
NM_001303465.2:c.721G>T	NP_001290394.1:p.Val241Leu
NM_181311.4:c.619G>T	NP_851828.1:p.Val207Leu
NM_181312.4:c.667G>T	NP_851829.1:p.Val223Leu
NM_181313.4:c.577G>T	NP_851830.1:p.Val193Leu
NR_024048.3:n.1030G>T