Canonical Allele Identifier: CA415184452

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1454T>C
ENST00000698317.1:n.2070T>C
ENST00000698318.1:n.1853T>C
ENST00000698319.1:n.1216T>C
ENST00000698320.1:n.1104T>C
ENST00000470127.2:n.1117T>C
ENST00000475699.6:c.608T>C	ENSP00000419854.3:p.Val203Ala
ENST00000483674.3:n.526T>C
ENST00000601016.6:c.644T>C MANE Select	ENSP00000469981.1:p.Val215Ala
ENST00000612012.5:c.602T>C	ENSP00000482070.2:p.Val201Ala
ENST00000612460.5:c.554T>C	ENSP00000481037.1:p.Val185Ala
ENST00000614595.2:n.1991T>C
ENST00000615658.5:n.1233T>C
ENST00000616020.5:c.656T>C	ENSP00000483636.2:p.Val219Ala
ENST00000617701.5:c.*657T>C	ENSP00000481645.1:n.*657T>C
ENST00000652354.1:c.326T>C	ENSP00000498734.1:p.Val109Ala
ENST00000652358.1:c.437T>C	ENSP00000498464.1:p.Val146Ala
ENST00000652390.1:c.563T>C	ENSP00000498858.1:p.Val188Ala
ENST00000652476.1:n.1310T>C
ENST00000652644.1:c.257T>C	ENSP00000498496.1:p.Val86Ala
ENST00000652682.1:c.701T>C	ENSP00000498288.1:p.Val234Ala
ENST00000652685.1:n.997T>C
ENST00000369776.8:c.437T>C	ENSP00000358791.4:p.Val146Ala
ENST00000426231.5:c.641T>C
ENST00000439735.2:c.551T>C	ENSP00000398193.1:p.Val184Ala
ENST00000470127.1:n.223T>C
ENST00000475699.5:c.602T>C	ENSP00000419854.2:p.Val201Ala
ENST00000494912.5:n.1333T>C
ENST00000498029.1:n.102T>C
ENST00000601016.5:c.644T>C	ENSP00000469981.1:p.Val215Ala
ENST00000612460.4:c.554T>C	ENSP00000481037.1:p.Val185Ala
ENST00000613002.4:c.512T>C	ENSP00000478154.1:p.Val171Ala
ENST00000615986.4:c.*372T>C	ENSP00000480133.1:n.*372T>C
NM_000116.4:c.644T>C	NP_000107.1:p.Val215Ala
NM_001303465.1:c.656T>C	NP_001290394.1:p.Val219Ala
NM_181311.3:c.554T>C	NP_851828.1:p.Val185Ala
NM_181312.3:c.602T>C	NP_851829.1:p.Val201Ala
NM_181313.3:c.512T>C	NP_851830.1:p.Val171Ala
NR_024048.2:n.986T>C
XM_006724836.1:c.698T>C	XP_006724899.1:p.Val233Ala
XM_006724837.1:c.566T>C	XP_006724900.1:p.Val189Ala
XM_006724839.1:c.566T>C	XP_006724902.1:p.Val189Ala
XM_006724841.2:c.437T>C	XP_006724904.1:p.Val146Ala
XM_006724842.2:c.347T>C	XP_006724905.1:p.Val116Ala
XM_011531189.1:c.485T>C	XP_011529491.1:p.Val162Ala
XM_011531190.1:c.437T>C	XP_011529492.1:p.Val146Ala
XM_011531191.1:c.368T>C	XP_011529493.1:p.Val123Ala
XM_011531192.1:c.365T>C	XP_011529494.1:p.Val122Ala
XR_938511.1:n.992T>C
XM_006724841.4:c.437T>C	XP_006724904.1:p.Val146Ala
XM_006724842.4:c.347T>C	XP_006724905.1:p.Val116Ala
XM_011531191.2:c.368T>C	XP_011529493.1:p.Val123Ala
XM_017029761.1:c.512T>C	XP_016885250.1:p.Val171Ala
XM_017029762.1:c.608T>C	XP_016885251.1:p.Val203Ala
XM_017029763.1:c.431T>C	XP_016885252.1:p.Val144Ala
XM_017029764.1:c.365T>C	XP_016885253.1:p.Val122Ala
XM_017029765.2:c.305T>C	XP_016885254.1:p.Val102Ala
XM_024452431.1:c.485T>C	XP_024308199.1:p.Val162Ala
NM_000116.5:c.644T>C MANE Select	NP_000107.1:p.Val215Ala
NM_001303465.2:c.656T>C	NP_001290394.1:p.Val219Ala
NM_181311.4:c.554T>C	NP_851828.1:p.Val185Ala
NM_181312.4:c.602T>C	NP_851829.1:p.Val201Ala
NM_181313.4:c.512T>C	NP_851830.1:p.Val171Ala
NR_024048.3:n.965T>C