Canonical Allele Identifier: CA2695123530

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154419769-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419769C>T , CM000685.2:g.154419769C>T	GRCh38
NC_000023.10:g.153648108C>T , CM000685.1:g.153648108C>T	GRCh37
NC_000023.9:g.153301302C>T	NCBI36
NG_009634.1:g.13232C>T
NG_009634.2:g.13235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1131C>T
ENST00000698317.1:n.1747C>T
ENST00000698318.1:n.1530C>T
ENST00000698319.1:n.893C>T
ENST00000698320.1:n.781C>T
ENST00000470127.2:n.794C>T
ENST00000475699.6:c.547+23C>T	ENSP00000419854.3:n.547+23C>T
ENST00000483674.3:n.465+23C>T
ENST00000601016.6:c.583+23C>T MANE Select	ENSP00000469981.1:n.583+23C>T
ENST00000612012.5:c.541+146C>T	ENSP00000482070.2:n.541+146C>T
ENST00000612460.5:c.493+23C>T	ENSP00000481037.1:n.493+23C>T
ENST00000614595.2:n.1930+23C>T
ENST00000615658.5:n.910C>T
ENST00000616020.5:c.595+146C>T	ENSP00000483636.2:n.595+146C>T
ENST00000617701.5:c.*334C>T	ENSP00000481645.1:n.*334C>T
ENST00000652354.1:c.265+146C>T	ENSP00000498734.1:n.265+146C>T
ENST00000652358.1:c.376+23C>T	ENSP00000498464.1:n.376+23C>T
ENST00000652390.1:c.502+23C>T	ENSP00000498858.1:n.502+23C>T
ENST00000652476.1:n.987C>T
ENST00000652644.1:c.196+23C>T	ENSP00000498496.1:n.196+23C>T
ENST00000652682.1:c.640+23C>T	ENSP00000498288.1:n.640+23C>T
ENST00000652685.1:n.674C>T
ENST00000369776.8:c.376+146C>T	ENSP00000358791.4:n.376+146C>T
ENST00000426231.5:c.580+23C>T
ENST00000439735.2:c.490+23C>T	ENSP00000398193.1:n.490+23C>T
ENST00000470127.1:n.162+23C>T
ENST00000475699.5:c.541+146C>T	ENSP00000419854.2:n.541+146C>T
ENST00000476679.5:n.600C>T
ENST00000483780.5:n.371C>T
ENST00000494912.5:n.1272+23C>T
ENST00000601016.5:c.583+23C>T	ENSP00000469981.1:n.583+23C>T
ENST00000612012.4:c.547+23C>T	ENSP00000482070.1:n.547+23C>T
ENST00000612460.4:c.493+23C>T	ENSP00000481037.1:n.493+23C>T
ENST00000613002.4:c.451+146C>T	ENSP00000478154.1:n.451+146C>T
ENST00000613634.4:n.836C>T
ENST00000615658.4:n.1010C>T
ENST00000615986.4:c.*311+23C>T	ENSP00000480133.1:n.*311+23C>T
ENST00000620808.4:c.*170-263C>T	ENSP00000479311.1:n.*170-263C>T
NM_000116.4:c.583+23C>T	NP_000107.1:n.583+23C>T
NM_001303465.1:c.595+146C>T	NP_001290394.1:n.595+146C>T
NM_181311.3:c.493+23C>T	NP_851828.1:n.493+23C>T
NM_181312.3:c.541+146C>T	NP_851829.1:n.541+146C>T
NM_181313.3:c.451+146C>T	NP_851830.1:n.451+146C>T
NR_024048.2:n.925+23C>T
XM_006724836.1:c.637+23C>T	XP_006724899.1:n.637+23C>T
XM_006724837.1:c.505+146C>T	XP_006724900.1:n.505+146C>T
XM_006724839.1:c.505+146C>T	XP_006724902.1:n.505+146C>T
XM_006724841.2:c.376+23C>T	XP_006724904.1:n.376+23C>T
XM_006724842.2:c.286+23C>T	XP_006724905.1:n.286+23C>T
XM_011531189.1:c.425-263C>T	XP_011529491.1:n.425-263C>T
XM_011531190.1:c.376+23C>T	XP_011529492.1:n.376+23C>T
XM_011531191.1:c.307+23C>T	XP_011529493.1:n.307+23C>T
XM_011531192.1:c.304+23C>T	XP_011529494.1:n.304+23C>T
XR_938511.1:n.931+23C>T
XM_006724841.4:c.376+23C>T	XP_006724904.1:n.376+23C>T
XM_006724842.4:c.286+23C>T	XP_006724905.1:n.286+23C>T
XM_011531191.2:c.307+23C>T	XP_011529493.1:n.307+23C>T
XM_017029761.1:c.451+146C>T	XP_016885250.1:n.451+146C>T
XM_017029762.1:c.547+23C>T	XP_016885251.1:n.547+23C>T
XM_017029763.1:c.371-263C>T	XP_016885252.1:n.371-263C>T
XM_017029764.1:c.304+23C>T	XP_016885253.1:n.304+23C>T
XM_017029765.2:c.244+146C>T	XP_016885254.1:n.244+146C>T
XM_024452431.1:c.425-263C>T	XP_024308199.1:n.425-263C>T
NM_000116.5:c.583+23C>T MANE Select	NP_000107.1:n.583+23C>T
NM_001303465.2:c.595+146C>T	NP_001290394.1:n.595+146C>T
NM_181311.4:c.493+23C>T	NP_851828.1:n.493+23C>T
NM_181312.4:c.541+146C>T	NP_851829.1:n.541+146C>T
NM_181313.4:c.451+146C>T	NP_851830.1:n.451+146C>T
NR_024048.3:n.904+23C>T