Canonical Allele Identifier: CA415181160

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641853G>T (hg19) ; chrX:g.154413516G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413516G>T , CM000685.2:g.154413516G>T	GRCh38
NC_000023.10:g.153641853G>T , CM000685.1:g.153641853G>T	GRCh37
NC_000023.9:g.153295047G>T	NCBI36
NG_009634.1:g.6977G>T
NG_012884.2:g.3573C>A
NG_009634.2:g.6982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.853G>T
ENST00000698235.1:n.393G>T
ENST00000698317.1:n.1379G>T
ENST00000698318.1:n.1252G>T
ENST00000470127.2:n.597G>T
ENST00000475699.6:c.373G>T	ENSP00000419854.3:p.Glu125Ter
ENST00000476800.2:n.1505G>T
ENST00000483674.3:n.210G>T
ENST00000601016.6:c.319G>T MANE Select	ENSP00000469981.1:p.Glu107Ter
ENST00000612012.5:c.319G>T	ENSP00000482070.2:p.Glu107Ter
ENST00000612460.5:c.319G>T	ENSP00000481037.1:p.Glu107Ter
ENST00000614595.2:n.1756G>T
ENST00000615658.5:n.632G>T
ENST00000616020.5:c.373G>T	ENSP00000483636.2:p.Glu125Ter
ENST00000617701.5:c.*137G>T	ENSP00000481645.1:n.*137G>T
ENST00000621647.2:n.601G>T
ENST00000652354.1:c.43G>T	ENSP00000498734.1:p.Glu15Ter
ENST00000652358.1:c.112G>T	ENSP00000498464.1:p.Glu38Ter
ENST00000652390.1:c.238G>T	ENSP00000498858.1:p.Glu80Ter
ENST00000652476.1:n.709G>T
ENST00000652682.1:c.319G>T	ENSP00000498288.1:p.Glu107Ter
ENST00000652685.1:n.477G>T
ENST00000369776.8:c.244G>T	ENSP00000358791.4:p.Glu82Ter
ENST00000426231.5:c.235G>T
ENST00000439735.2:c.319G>T	ENSP00000398193.1:p.Glu107Ter
ENST00000475699.5:c.319G>T	ENSP00000419854.2:p.Glu107Ter
ENST00000476679.5:n.232G>T
ENST00000476800.1:n.426G>T
ENST00000479875.1:n.348G>T
ENST00000483674.2:n.28G>T
ENST00000483780.5:n.93G>T
ENST00000601016.5:c.319G>T	ENSP00000469981.1:p.Glu107Ter
ENST00000612012.4:c.373G>T	ENSP00000482070.1:p.Glu125Ter
ENST00000612460.4:c.319G>T	ENSP00000481037.1:p.Glu107Ter
ENST00000613002.4:c.319G>T	ENSP00000478154.1:p.Glu107Ter
ENST00000613634.4:n.639G>T
ENST00000615658.4:n.732G>T
ENST00000615986.4:c.*137G>T	ENSP00000480133.1:n.*137G>T
ENST00000616020.4:c.373G>T	ENSP00000483636.1:p.Glu125Ter
ENST00000617701.4:c.*149G>T	ENSP00000481645.1:n.*149G>T
ENST00000620808.4:c.*118G>T	ENSP00000479311.1:n.*118G>T
ENST00000621647.1:n.833G>T
NM_000116.4:c.319G>T	NP_000107.1:p.Glu107Ter
NM_001303465.1:c.373G>T	NP_001290394.1:p.Glu125Ter
NM_181311.3:c.319G>T	NP_851828.1:p.Glu107Ter
NM_181312.3:c.319G>T	NP_851829.1:p.Glu107Ter
NM_181313.3:c.319G>T	NP_851830.1:p.Glu107Ter
NR_024048.2:n.751G>T
XM_006724836.1:c.373G>T	XP_006724899.1:p.Glu125Ter
XM_006724837.1:c.373G>T	XP_006724900.1:p.Glu125Ter
XM_006724839.1:c.373G>T	XP_006724902.1:p.Glu125Ter
XM_006724841.2:c.112G>T	XP_006724904.1:p.Glu38Ter
XM_006724842.2:c.112G>T	XP_006724905.1:p.Glu38Ter
XM_011531189.1:c.373G>T	XP_011529491.1:p.Glu125Ter
XM_011531190.1:c.112G>T	XP_011529492.1:p.Glu38Ter
XM_011531191.1:c.43G>T	XP_011529493.1:p.Glu15Ter
XM_011531192.1:c.40G>T	XP_011529494.1:p.Glu14Ter
XR_938511.1:n.676G>T
XM_006724841.4:c.112G>T	XP_006724904.1:p.Glu38Ter
XM_006724842.4:c.112G>T	XP_006724905.1:p.Glu38Ter
XM_011531191.2:c.43G>T	XP_011529493.1:p.Glu15Ter
XM_017029761.1:c.319G>T	XP_016885250.1:p.Glu107Ter
XM_017029762.1:c.373G>T	XP_016885251.1:p.Glu125Ter
XM_017029763.1:c.319G>T	XP_016885252.1:p.Glu107Ter
XM_017029764.1:c.40G>T	XP_016885253.1:p.Glu14Ter
XM_017029765.2:c.112G>T	XP_016885254.1:p.Glu38Ter
XM_024452431.1:c.373G>T	XP_024308199.1:p.Glu125Ter
NM_000116.5:c.319G>T MANE Select	NP_000107.1:p.Glu107Ter
NM_001303465.2:c.373G>T	NP_001290394.1:p.Glu125Ter
NM_181311.4:c.319G>T	NP_851828.1:p.Glu107Ter
NM_181312.4:c.319G>T	NP_851829.1:p.Glu107Ter
NM_181313.4:c.319G>T	NP_851830.1:p.Glu107Ter
NR_024048.3:n.730G>T