Canonical Allele Identifier: CA415184446

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648431T>A (hg19) ; chrX:g.154420092T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420092T>A , CM000685.2:g.154420092T>A	GRCh38
NC_000023.10:g.153648431T>A , CM000685.1:g.153648431T>A	GRCh37
NC_000023.9:g.153301625T>A	NCBI36
NG_009634.1:g.13555T>A
NG_009634.2:g.13558T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1454T>A
ENST00000698317.1:n.2070T>A
ENST00000698318.1:n.1853T>A
ENST00000698319.1:n.1216T>A
ENST00000698320.1:n.1104T>A
ENST00000470127.2:n.1117T>A
ENST00000475699.6:c.608T>A	ENSP00000419854.3:p.Val203Asp
ENST00000483674.3:n.526T>A
ENST00000601016.6:c.644T>A MANE Select	ENSP00000469981.1:p.Val215Asp
ENST00000612012.5:c.602T>A	ENSP00000482070.2:p.Val201Asp
ENST00000612460.5:c.554T>A	ENSP00000481037.1:p.Val185Asp
ENST00000614595.2:n.1991T>A
ENST00000615658.5:n.1233T>A
ENST00000616020.5:c.656T>A	ENSP00000483636.2:p.Val219Asp
ENST00000617701.5:c.*657T>A	ENSP00000481645.1:n.*657T>A
ENST00000652354.1:c.326T>A	ENSP00000498734.1:p.Val109Asp
ENST00000652358.1:c.437T>A	ENSP00000498464.1:p.Val146Asp
ENST00000652390.1:c.563T>A	ENSP00000498858.1:p.Val188Asp
ENST00000652476.1:n.1310T>A
ENST00000652644.1:c.257T>A	ENSP00000498496.1:p.Val86Asp
ENST00000652682.1:c.701T>A	ENSP00000498288.1:p.Val234Asp
ENST00000652685.1:n.997T>A
ENST00000369776.8:c.437T>A	ENSP00000358791.4:p.Val146Asp
ENST00000426231.5:c.641T>A
ENST00000439735.2:c.551T>A	ENSP00000398193.1:p.Val184Asp
ENST00000470127.1:n.223T>A
ENST00000475699.5:c.602T>A	ENSP00000419854.2:p.Val201Asp
ENST00000494912.5:n.1333T>A
ENST00000498029.1:n.102T>A
ENST00000601016.5:c.644T>A	ENSP00000469981.1:p.Val215Asp
ENST00000612460.4:c.554T>A	ENSP00000481037.1:p.Val185Asp
ENST00000613002.4:c.512T>A	ENSP00000478154.1:p.Val171Asp
ENST00000615986.4:c.*372T>A	ENSP00000480133.1:n.*372T>A
NM_000116.4:c.644T>A	NP_000107.1:p.Val215Asp
NM_001303465.1:c.656T>A	NP_001290394.1:p.Val219Asp
NM_181311.3:c.554T>A	NP_851828.1:p.Val185Asp
NM_181312.3:c.602T>A	NP_851829.1:p.Val201Asp
NM_181313.3:c.512T>A	NP_851830.1:p.Val171Asp
NR_024048.2:n.986T>A
XM_006724836.1:c.698T>A	XP_006724899.1:p.Val233Asp
XM_006724837.1:c.566T>A	XP_006724900.1:p.Val189Asp
XM_006724839.1:c.566T>A	XP_006724902.1:p.Val189Asp
XM_006724841.2:c.437T>A	XP_006724904.1:p.Val146Asp
XM_006724842.2:c.347T>A	XP_006724905.1:p.Val116Asp
XM_011531189.1:c.485T>A	XP_011529491.1:p.Val162Asp
XM_011531190.1:c.437T>A	XP_011529492.1:p.Val146Asp
XM_011531191.1:c.368T>A	XP_011529493.1:p.Val123Asp
XM_011531192.1:c.365T>A	XP_011529494.1:p.Val122Asp
XR_938511.1:n.992T>A
XM_006724841.4:c.437T>A	XP_006724904.1:p.Val146Asp
XM_006724842.4:c.347T>A	XP_006724905.1:p.Val116Asp
XM_011531191.2:c.368T>A	XP_011529493.1:p.Val123Asp
XM_017029761.1:c.512T>A	XP_016885250.1:p.Val171Asp
XM_017029762.1:c.608T>A	XP_016885251.1:p.Val203Asp
XM_017029763.1:c.431T>A	XP_016885252.1:p.Val144Asp
XM_017029764.1:c.365T>A	XP_016885253.1:p.Val122Asp
XM_017029765.2:c.305T>A	XP_016885254.1:p.Val102Asp
XM_024452431.1:c.485T>A	XP_024308199.1:p.Val162Asp
NM_000116.5:c.644T>A MANE Select	NP_000107.1:p.Val215Asp
NM_001303465.2:c.656T>A	NP_001290394.1:p.Val219Asp
NM_181311.4:c.554T>A	NP_851828.1:p.Val185Asp
NM_181312.4:c.602T>A	NP_851829.1:p.Val201Asp
NM_181313.4:c.512T>A	NP_851830.1:p.Val171Asp
NR_024048.3:n.965T>A