Canonical Allele Identifier: CA2695123553

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154419795-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419795G>C , CM000685.2:g.154419795G>C	GRCh38
NC_000023.10:g.153648134G>C , CM000685.1:g.153648134G>C	GRCh37
NC_000023.9:g.153301328G>C	NCBI36
NG_009634.1:g.13258G>C
NG_009634.2:g.13261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1157G>C
ENST00000698317.1:n.1773G>C
ENST00000698318.1:n.1556G>C
ENST00000698319.1:n.919G>C
ENST00000698320.1:n.807G>C
ENST00000470127.2:n.820G>C
ENST00000475699.6:c.547+49G>C	ENSP00000419854.3:n.547+49G>C
ENST00000483674.3:n.465+49G>C
ENST00000601016.6:c.583+49G>C MANE Select	ENSP00000469981.1:n.583+49G>C
ENST00000612012.5:c.541+172G>C	ENSP00000482070.2:n.541+172G>C
ENST00000612460.5:c.493+49G>C	ENSP00000481037.1:n.493+49G>C
ENST00000614595.2:n.1930+49G>C
ENST00000615658.5:n.936G>C
ENST00000616020.5:c.595+172G>C	ENSP00000483636.2:n.595+172G>C
ENST00000617701.5:c.*360G>C	ENSP00000481645.1:n.*360G>C
ENST00000652354.1:c.265+172G>C	ENSP00000498734.1:n.265+172G>C
ENST00000652358.1:c.376+49G>C	ENSP00000498464.1:n.376+49G>C
ENST00000652390.1:c.502+49G>C	ENSP00000498858.1:n.502+49G>C
ENST00000652476.1:n.1013G>C
ENST00000652644.1:c.196+49G>C	ENSP00000498496.1:n.196+49G>C
ENST00000652682.1:c.640+49G>C	ENSP00000498288.1:n.640+49G>C
ENST00000652685.1:n.700G>C
ENST00000369776.8:c.376+172G>C	ENSP00000358791.4:n.376+172G>C
ENST00000426231.5:c.580+49G>C
ENST00000439735.2:c.490+49G>C	ENSP00000398193.1:n.490+49G>C
ENST00000470127.1:n.162+49G>C
ENST00000475699.5:c.541+172G>C	ENSP00000419854.2:n.541+172G>C
ENST00000476679.5:n.626G>C
ENST00000494912.5:n.1272+49G>C
ENST00000601016.5:c.583+49G>C	ENSP00000469981.1:n.583+49G>C
ENST00000612012.4:c.547+49G>C	ENSP00000482070.1:n.547+49G>C
ENST00000612460.4:c.493+49G>C	ENSP00000481037.1:n.493+49G>C
ENST00000613002.4:c.451+172G>C	ENSP00000478154.1:n.451+172G>C
ENST00000613634.4:n.862G>C
ENST00000615658.4:n.1036G>C
ENST00000615986.4:c.*311+49G>C	ENSP00000480133.1:n.*311+49G>C
ENST00000620808.4:c.*170-237G>C	ENSP00000479311.1:n.*170-237G>C
NM_000116.4:c.583+49G>C	NP_000107.1:n.583+49G>C
NM_001303465.1:c.595+172G>C	NP_001290394.1:n.595+172G>C
NM_181311.3:c.493+49G>C	NP_851828.1:n.493+49G>C
NM_181312.3:c.541+172G>C	NP_851829.1:n.541+172G>C
NM_181313.3:c.451+172G>C	NP_851830.1:n.451+172G>C
NR_024048.2:n.925+49G>C
XM_006724836.1:c.637+49G>C	XP_006724899.1:n.637+49G>C
XM_006724837.1:c.505+172G>C	XP_006724900.1:n.505+172G>C
XM_006724839.1:c.505+172G>C	XP_006724902.1:n.505+172G>C
XM_006724841.2:c.376+49G>C	XP_006724904.1:n.376+49G>C
XM_006724842.2:c.286+49G>C	XP_006724905.1:n.286+49G>C
XM_011531189.1:c.425-237G>C	XP_011529491.1:n.425-237G>C
XM_011531190.1:c.376+49G>C	XP_011529492.1:n.376+49G>C
XM_011531191.1:c.307+49G>C	XP_011529493.1:n.307+49G>C
XM_011531192.1:c.304+49G>C	XP_011529494.1:n.304+49G>C
XR_938511.1:n.931+49G>C
XM_006724841.4:c.376+49G>C	XP_006724904.1:n.376+49G>C
XM_006724842.4:c.286+49G>C	XP_006724905.1:n.286+49G>C
XM_011531191.2:c.307+49G>C	XP_011529493.1:n.307+49G>C
XM_017029761.1:c.451+172G>C	XP_016885250.1:n.451+172G>C
XM_017029762.1:c.547+49G>C	XP_016885251.1:n.547+49G>C
XM_017029763.1:c.371-237G>C	XP_016885252.1:n.371-237G>C
XM_017029764.1:c.304+49G>C	XP_016885253.1:n.304+49G>C
XM_017029765.2:c.244+172G>C	XP_016885254.1:n.244+172G>C
XM_024452431.1:c.425-237G>C	XP_024308199.1:n.425-237G>C
NM_000116.5:c.583+49G>C MANE Select	NP_000107.1:n.583+49G>C
NM_001303465.2:c.595+172G>C	NP_001290394.1:n.595+172G>C
NM_181311.4:c.493+49G>C	NP_851828.1:n.493+49G>C
NM_181312.4:c.541+172G>C	NP_851829.1:n.541+172G>C
NM_181313.4:c.451+172G>C	NP_851830.1:n.451+172G>C
NR_024048.3:n.904+49G>C