Canonical Allele Identifier: CA415181953

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641878T>A (hg19) ; chrX:g.154413541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413541T>A , CM000685.2:g.154413541T>A	GRCh38
NC_000023.10:g.153641878T>A , CM000685.1:g.153641878T>A	GRCh37
NC_000023.9:g.153295072T>A	NCBI36
NG_009634.1:g.7002T>A
NG_012884.2:g.3548A>T
NG_009634.2:g.7007T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.878T>A
ENST00000698235.1:n.418T>A
ENST00000698317.1:n.1404T>A
ENST00000698318.1:n.1277T>A
ENST00000470127.2:n.622T>A
ENST00000475699.6:c.398T>A	ENSP00000419854.3:p.Leu133Ter
ENST00000476800.2:n.1530T>A
ENST00000483674.3:n.235T>A
ENST00000601016.6:c.344T>A MANE Select	ENSP00000469981.1:p.Leu115Ter
ENST00000612012.5:c.344T>A	ENSP00000482070.2:p.Leu115Ter
ENST00000612460.5:c.344T>A	ENSP00000481037.1:p.Leu115Ter
ENST00000614595.2:n.1781T>A
ENST00000615658.5:n.657T>A
ENST00000616020.5:c.398T>A	ENSP00000483636.2:p.Leu133Ter
ENST00000617701.5:c.*162T>A	ENSP00000481645.1:n.*162T>A
ENST00000621647.2:n.626T>A
ENST00000652354.1:c.68T>A	ENSP00000498734.1:p.Leu23Ter
ENST00000652358.1:c.137T>A	ENSP00000498464.1:p.Leu46Ter
ENST00000652390.1:c.263T>A	ENSP00000498858.1:p.Leu88Ter
ENST00000652476.1:n.734T>A
ENST00000652682.1:c.344T>A	ENSP00000498288.1:p.Leu115Ter
ENST00000652685.1:n.502T>A
ENST00000369776.8:c.269T>A	ENSP00000358791.4:p.Leu90Ter
ENST00000426231.5:c.260T>A
ENST00000439735.2:c.344T>A	ENSP00000398193.1:p.Leu115Ter
ENST00000470127.1:n.13T>A
ENST00000475699.5:c.344T>A	ENSP00000419854.2:p.Leu115Ter
ENST00000476679.5:n.257T>A
ENST00000476800.1:n.451T>A
ENST00000479875.1:n.373T>A
ENST00000483674.2:n.53T>A
ENST00000483780.5:n.118T>A
ENST00000601016.5:c.344T>A	ENSP00000469981.1:p.Leu115Ter
ENST00000612012.4:c.398T>A	ENSP00000482070.1:p.Leu133Ter
ENST00000612460.4:c.344T>A	ENSP00000481037.1:p.Leu115Ter
ENST00000613002.4:c.344T>A	ENSP00000478154.1:p.Leu115Ter
ENST00000613634.4:n.664T>A
ENST00000615658.4:n.757T>A
ENST00000615986.4:c.*162T>A	ENSP00000480133.1:n.*162T>A
ENST00000616020.4:c.398T>A	ENSP00000483636.1:p.Leu133Ter
ENST00000617701.4:c.*174T>A	ENSP00000481645.1:n.*174T>A
ENST00000620808.4:c.*143T>A	ENSP00000479311.1:n.*143T>A
ENST00000621647.1:n.858T>A
NM_000116.4:c.344T>A	NP_000107.1:p.Leu115Ter
NM_001303465.1:c.398T>A	NP_001290394.1:p.Leu133Ter
NM_181311.3:c.344T>A	NP_851828.1:p.Leu115Ter
NM_181312.3:c.344T>A	NP_851829.1:p.Leu115Ter
NM_181313.3:c.344T>A	NP_851830.1:p.Leu115Ter
NR_024048.2:n.776T>A
XM_006724836.1:c.398T>A	XP_006724899.1:p.Leu133Ter
XM_006724837.1:c.398T>A	XP_006724900.1:p.Leu133Ter
XM_006724839.1:c.398T>A	XP_006724902.1:p.Leu133Ter
XM_006724841.2:c.137T>A	XP_006724904.1:p.Leu46Ter
XM_006724842.2:c.137T>A	XP_006724905.1:p.Leu46Ter
XM_011531189.1:c.398T>A	XP_011529491.1:p.Leu133Ter
XM_011531190.1:c.137T>A	XP_011529492.1:p.Leu46Ter
XM_011531191.1:c.68T>A	XP_011529493.1:p.Leu23Ter
XM_011531192.1:c.65T>A	XP_011529494.1:p.Leu22Ter
XR_938511.1:n.701T>A
XM_006724841.4:c.137T>A	XP_006724904.1:p.Leu46Ter
XM_006724842.4:c.137T>A	XP_006724905.1:p.Leu46Ter
XM_011531191.2:c.68T>A	XP_011529493.1:p.Leu23Ter
XM_017029761.1:c.344T>A	XP_016885250.1:p.Leu115Ter
XM_017029762.1:c.398T>A	XP_016885251.1:p.Leu133Ter
XM_017029763.1:c.344T>A	XP_016885252.1:p.Leu115Ter
XM_017029764.1:c.65T>A	XP_016885253.1:p.Leu22Ter
XM_017029765.2:c.137T>A	XP_016885254.1:p.Leu46Ter
XM_024452431.1:c.398T>A	XP_024308199.1:p.Leu133Ter
NM_000116.5:c.344T>A MANE Select	NP_000107.1:p.Leu115Ter
NM_001303465.2:c.398T>A	NP_001290394.1:p.Leu133Ter
NM_181311.4:c.344T>A	NP_851828.1:p.Leu115Ter
NM_181312.4:c.344T>A	NP_851829.1:p.Leu115Ter
NM_181313.4:c.344T>A	NP_851830.1:p.Leu115Ter
NR_024048.3:n.755T>A