Canonical Allele Identifier: CA2695123873

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420002-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420002T>C , CM000685.2:g.154420002T>C	GRCh38
NC_000023.10:g.153648341T>C , CM000685.1:g.153648341T>C	GRCh37
NC_000023.9:g.153301535T>C	NCBI36
NG_009634.1:g.13465T>C
NG_009634.2:g.13468T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1364T>C
ENST00000698317.1:n.1980T>C
ENST00000698318.1:n.1763T>C
ENST00000698319.1:n.1126T>C
ENST00000698320.1:n.1014T>C
ENST00000470127.2:n.1027T>C
ENST00000475699.6:c.548-30T>C	ENSP00000419854.3:n.548-30T>C
ENST00000483674.3:n.466-30T>C
ENST00000601016.6:c.584-30T>C MANE Select	ENSP00000469981.1:n.584-30T>C
ENST00000612012.5:c.542-30T>C	ENSP00000482070.2:n.542-30T>C
ENST00000612460.5:c.494-30T>C	ENSP00000481037.1:n.494-30T>C
ENST00000614595.2:n.1931-30T>C
ENST00000615658.5:n.1143T>C
ENST00000616020.5:c.596-30T>C	ENSP00000483636.2:n.596-30T>C
ENST00000617701.5:c.*567T>C	ENSP00000481645.1:n.*567T>C
ENST00000652354.1:c.266-30T>C	ENSP00000498734.1:n.266-30T>C
ENST00000652358.1:c.377-30T>C	ENSP00000498464.1:n.377-30T>C
ENST00000652390.1:c.503-30T>C	ENSP00000498858.1:n.503-30T>C
ENST00000652476.1:n.1220T>C
ENST00000652644.1:c.197-30T>C	ENSP00000498496.1:n.197-30T>C
ENST00000652682.1:c.641-30T>C	ENSP00000498288.1:n.641-30T>C
ENST00000652685.1:n.907T>C
ENST00000369776.8:c.377-30T>C	ENSP00000358791.4:n.377-30T>C
ENST00000426231.5:c.581-30T>C
ENST00000439735.2:c.491-30T>C	ENSP00000398193.1:n.491-30T>C
ENST00000470127.1:n.163-30T>C
ENST00000475699.5:c.542-30T>C	ENSP00000419854.2:n.542-30T>C
ENST00000494912.5:n.1273-30T>C
ENST00000498029.1:n.12T>C
ENST00000601016.5:c.584-30T>C	ENSP00000469981.1:n.584-30T>C
ENST00000612012.4:c.548-30T>C	ENSP00000482070.1:n.548-30T>C
ENST00000612460.4:c.494-30T>C	ENSP00000481037.1:n.494-30T>C
ENST00000613002.4:c.452-30T>C	ENSP00000478154.1:n.452-30T>C
ENST00000613634.4:n.1069T>C
ENST00000615658.4:n.1243T>C
ENST00000615986.4:c.*312-30T>C	ENSP00000480133.1:n.*312-30T>C
ENST00000620808.4:c.*170-30T>C	ENSP00000479311.1:n.*170-30T>C
NM_000116.4:c.584-30T>C	NP_000107.1:n.584-30T>C
NM_001303465.1:c.596-30T>C	NP_001290394.1:n.596-30T>C
NM_181311.3:c.494-30T>C	NP_851828.1:n.494-30T>C
NM_181312.3:c.542-30T>C	NP_851829.1:n.542-30T>C
NM_181313.3:c.452-30T>C	NP_851830.1:n.452-30T>C
NR_024048.2:n.926-30T>C
XM_006724836.1:c.638-30T>C	XP_006724899.1:n.638-30T>C
XM_006724837.1:c.506-30T>C	XP_006724900.1:n.506-30T>C
XM_006724839.1:c.506-30T>C	XP_006724902.1:n.506-30T>C
XM_006724841.2:c.377-30T>C	XP_006724904.1:n.377-30T>C
XM_006724842.2:c.287-30T>C	XP_006724905.1:n.287-30T>C
XM_011531189.1:c.425-30T>C	XP_011529491.1:n.425-30T>C
XM_011531190.1:c.377-30T>C	XP_011529492.1:n.377-30T>C
XM_011531191.1:c.308-30T>C	XP_011529493.1:n.308-30T>C
XM_011531192.1:c.305-30T>C	XP_011529494.1:n.305-30T>C
XR_938511.1:n.932-30T>C
XM_006724841.4:c.377-30T>C	XP_006724904.1:n.377-30T>C
XM_006724842.4:c.287-30T>C	XP_006724905.1:n.287-30T>C
XM_011531191.2:c.308-30T>C	XP_011529493.1:n.308-30T>C
XM_017029761.1:c.452-30T>C	XP_016885250.1:n.452-30T>C
XM_017029762.1:c.548-30T>C	XP_016885251.1:n.548-30T>C
XM_017029763.1:c.371-30T>C	XP_016885252.1:n.371-30T>C
XM_017029764.1:c.305-30T>C	XP_016885253.1:n.305-30T>C
XM_017029765.2:c.245-30T>C	XP_016885254.1:n.245-30T>C
XM_024452431.1:c.425-30T>C	XP_024308199.1:n.425-30T>C
NM_000116.5:c.584-30T>C MANE Select	NP_000107.1:n.584-30T>C
NM_001303465.2:c.596-30T>C	NP_001290394.1:n.596-30T>C
NM_181311.4:c.494-30T>C	NP_851828.1:n.494-30T>C
NM_181312.4:c.542-30T>C	NP_851829.1:n.542-30T>C
NM_181313.4:c.452-30T>C	NP_851830.1:n.452-30T>C
NR_024048.3:n.905-30T>C