Canonical Allele Identifier: CA415182040

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641888T>A (hg19) ; chrX:g.154413551T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413551T>A , CM000685.2:g.154413551T>A	GRCh38
NC_000023.10:g.153641888T>A , CM000685.1:g.153641888T>A	GRCh37
NC_000023.9:g.153295082T>A	NCBI36
NG_009634.1:g.7012T>A
NG_012884.2:g.3538A>T
NG_009634.2:g.7017T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.888T>A
ENST00000698235.1:n.428T>A
ENST00000698317.1:n.1414T>A
ENST00000698318.1:n.1287T>A
ENST00000470127.2:n.632T>A
ENST00000475699.6:c.408T>A	ENSP00000419854.3:p.Cys136Ter
ENST00000476800.2:n.1540T>A
ENST00000483674.3:n.245T>A
ENST00000601016.6:c.354T>A MANE Select	ENSP00000469981.1:p.Cys118Ter
ENST00000612012.5:c.354T>A	ENSP00000482070.2:p.Cys118Ter
ENST00000612460.5:c.354T>A	ENSP00000481037.1:p.Cys118Ter
ENST00000614595.2:n.1791T>A
ENST00000615658.5:n.667T>A
ENST00000616020.5:c.408T>A	ENSP00000483636.2:p.Cys136Ter
ENST00000617701.5:c.*172T>A	ENSP00000481645.1:n.*172T>A
ENST00000621647.2:n.636T>A
ENST00000652354.1:c.78T>A	ENSP00000498734.1:p.Cys26Ter
ENST00000652358.1:c.147T>A	ENSP00000498464.1:p.Cys49Ter
ENST00000652390.1:c.273T>A	ENSP00000498858.1:p.Cys91Ter
ENST00000652476.1:n.744T>A
ENST00000652682.1:c.354T>A	ENSP00000498288.1:p.Cys118Ter
ENST00000652685.1:n.512T>A
ENST00000369776.8:c.279T>A	ENSP00000358791.4:p.Cys93Ter
ENST00000426231.5:c.270T>A
ENST00000439735.2:c.354T>A	ENSP00000398193.1:p.Cys118Ter
ENST00000470127.1:n.23T>A
ENST00000475699.5:c.354T>A	ENSP00000419854.2:p.Cys118Ter
ENST00000476679.5:n.267T>A
ENST00000476800.1:n.461T>A
ENST00000479875.1:n.383T>A
ENST00000483674.2:n.63T>A
ENST00000483780.5:n.128T>A
ENST00000601016.5:c.354T>A	ENSP00000469981.1:p.Cys118Ter
ENST00000612012.4:c.408T>A	ENSP00000482070.1:p.Cys136Ter
ENST00000612460.4:c.354T>A	ENSP00000481037.1:p.Cys118Ter
ENST00000613002.4:c.354T>A	ENSP00000478154.1:p.Cys118Ter
ENST00000613634.4:n.674T>A
ENST00000615658.4:n.767T>A
ENST00000615986.4:c.*172T>A	ENSP00000480133.1:n.*172T>A
ENST00000616020.4:c.408T>A	ENSP00000483636.1:p.Cys136Ter
ENST00000617701.4:c.*184T>A	ENSP00000481645.1:n.*184T>A
ENST00000620808.4:c.*153T>A	ENSP00000479311.1:n.*153T>A
ENST00000621647.1:n.868T>A
NM_000116.4:c.354T>A	NP_000107.1:p.Cys118Ter
NM_001303465.1:c.408T>A	NP_001290394.1:p.Cys136Ter
NM_181311.3:c.354T>A	NP_851828.1:p.Cys118Ter
NM_181312.3:c.354T>A	NP_851829.1:p.Cys118Ter
NM_181313.3:c.354T>A	NP_851830.1:p.Cys118Ter
NR_024048.2:n.786T>A
XM_006724836.1:c.408T>A	XP_006724899.1:p.Cys136Ter
XM_006724837.1:c.408T>A	XP_006724900.1:p.Cys136Ter
XM_006724839.1:c.408T>A	XP_006724902.1:p.Cys136Ter
XM_006724841.2:c.147T>A	XP_006724904.1:p.Cys49Ter
XM_006724842.2:c.147T>A	XP_006724905.1:p.Cys49Ter
XM_011531189.1:c.408T>A	XP_011529491.1:p.Cys136Ter
XM_011531190.1:c.147T>A	XP_011529492.1:p.Cys49Ter
XM_011531191.1:c.78T>A	XP_011529493.1:p.Cys26Ter
XM_011531192.1:c.75T>A	XP_011529494.1:p.Cys25Ter
XR_938511.1:n.711T>A
XM_006724841.4:c.147T>A	XP_006724904.1:p.Cys49Ter
XM_006724842.4:c.147T>A	XP_006724905.1:p.Cys49Ter
XM_011531191.2:c.78T>A	XP_011529493.1:p.Cys26Ter
XM_017029761.1:c.354T>A	XP_016885250.1:p.Cys118Ter
XM_017029762.1:c.408T>A	XP_016885251.1:p.Cys136Ter
XM_017029763.1:c.354T>A	XP_016885252.1:p.Cys118Ter
XM_017029764.1:c.75T>A	XP_016885253.1:p.Cys25Ter
XM_017029765.2:c.147T>A	XP_016885254.1:p.Cys49Ter
XM_024452431.1:c.408T>A	XP_024308199.1:p.Cys136Ter
NM_000116.5:c.354T>A MANE Select	NP_000107.1:p.Cys118Ter
NM_001303465.2:c.408T>A	NP_001290394.1:p.Cys136Ter
NM_181311.4:c.354T>A	NP_851828.1:p.Cys118Ter
NM_181312.4:c.354T>A	NP_851829.1:p.Cys118Ter
NM_181313.4:c.354T>A	NP_851830.1:p.Cys118Ter
NR_024048.3:n.765T>A