Canonical Allele Identifier: CA2695120207

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420362-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420362G>T , CM000685.2:g.154420362G>T	GRCh38
NC_000023.10:g.153648701G>T , CM000685.1:g.153648701G>T	GRCh37
NC_000023.9:g.153301895G>T	NCBI36
NG_009634.1:g.13825G>T
NG_009634.2:g.13828G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1509+98G>T
ENST00000698317.1:n.2125+98G>T
ENST00000698318.1:n.1908+98G>T
ENST00000698319.1:n.1271+98G>T
ENST00000698320.1:n.1159+98G>T
ENST00000470127.2:n.1172+98G>T
ENST00000475699.6:c.663+98G>T	ENSP00000419854.3:n.663+98G>T
ENST00000483674.3:n.581+98G>T
ENST00000601016.6:c.699+98G>T MANE Select	ENSP00000469981.1:n.699+98G>T
ENST00000612012.5:c.657+98G>T	ENSP00000482070.2:n.657+98G>T
ENST00000612460.5:c.609+98G>T	ENSP00000481037.1:n.609+98G>T
ENST00000614595.2:n.2046+98G>T
ENST00000615658.5:n.1288+98G>T
ENST00000616020.5:c.711+98G>T	ENSP00000483636.2:n.711+98G>T
ENST00000617701.5:c.*712+98G>T	ENSP00000481645.1:n.*712+98G>T
ENST00000651139.1:c.-182G>T	ENSP00000498957.1:n.-182G>T
ENST00000652354.1:c.381+98G>T	ENSP00000498734.1:n.381+98G>T
ENST00000652358.1:c.492+98G>T	ENSP00000498464.1:n.492+98G>T
ENST00000652390.1:c.618+98G>T	ENSP00000498858.1:n.618+98G>T
ENST00000652476.1:n.1365+98G>T
ENST00000652644.1:c.312+98G>T	ENSP00000498496.1:n.312+98G>T
ENST00000652682.1:c.756+98G>T	ENSP00000498288.1:n.756+98G>T
ENST00000652685.1:n.1052+98G>T
ENST00000369776.8:c.609+98G>T	ENSP00000358791.4:n.609+98G>T
ENST00000426231.5:c.696+98G>T
ENST00000475699.5:c.657+98G>T	ENSP00000419854.2:n.657+98G>T
ENST00000494912.5:n.1388+98G>T
ENST00000498029.1:n.157+98G>T
ENST00000601016.5:c.699+98G>T	ENSP00000469981.1:n.699+98G>T
ENST00000612460.4:c.609+98G>T	ENSP00000481037.1:n.609+98G>T
ENST00000613002.4:c.567+98G>T	ENSP00000478154.1:n.567+98G>T
ENST00000615986.4:c.*427+98G>T	ENSP00000480133.1:n.*427+98G>T
NM_000116.4:c.699+98G>T	NP_000107.1:n.699+98G>T
NM_001303465.1:c.711+98G>T	NP_001290394.1:n.711+98G>T
NM_181311.3:c.609+98G>T	NP_851828.1:n.609+98G>T
NM_181312.3:c.657+98G>T	NP_851829.1:n.657+98G>T
NM_181313.3:c.567+98G>T	NP_851830.1:n.567+98G>T
NR_024048.2:n.1041+98G>T
XM_006724836.1:c.753+98G>T	XP_006724899.1:n.753+98G>T
XM_006724837.1:c.738+98G>T	XP_006724900.1:n.738+98G>T
XM_006724839.1:c.621+98G>T	XP_006724902.1:n.621+98G>T
XM_006724841.2:c.492+98G>T	XP_006724904.1:n.492+98G>T
XM_006724842.2:c.402+98G>T	XP_006724905.1:n.402+98G>T
XM_011531189.1:c.540+98G>T	XP_011529491.1:n.540+98G>T
XM_011531190.1:c.492+98G>T	XP_011529492.1:n.492+98G>T
XM_011531191.1:c.423+98G>T	XP_011529493.1:n.423+98G>T
XM_011531192.1:c.420+98G>T	XP_011529494.1:n.420+98G>T
XR_938511.1:n.1047+98G>T
XM_006724841.4:c.492+98G>T	XP_006724904.1:n.492+98G>T
XM_006724842.4:c.402+98G>T	XP_006724905.1:n.402+98G>T
XM_011531191.2:c.423+98G>T	XP_011529493.1:n.423+98G>T
XM_017029761.1:c.684+98G>T	XP_016885250.1:n.684+98G>T
XM_017029762.1:c.663+98G>T	XP_016885251.1:n.663+98G>T
XM_017029763.1:c.486+98G>T	XP_016885252.1:n.486+98G>T
XM_017029764.1:c.420+98G>T	XP_016885253.1:n.420+98G>T
XM_017029765.2:c.360+98G>T	XP_016885254.1:n.360+98G>T
XM_024452431.1:c.657+98G>T	XP_024308199.1:n.657+98G>T
NM_000116.5:c.699+98G>T MANE Select	NP_000107.1:n.699+98G>T
NM_001303465.2:c.711+98G>T	NP_001290394.1:n.711+98G>T
NM_181311.4:c.609+98G>T	NP_851828.1:n.609+98G>T
NM_181312.4:c.657+98G>T	NP_851829.1:n.657+98G>T
NM_181313.4:c.567+98G>T	NP_851830.1:n.567+98G>T
NR_024048.3:n.1020+98G>T