Canonical Allele Identifier: CA2695121828

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2763218
• ClinVar RCV Id: RCV003512545
• gnomAD v4: X-154413578-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413578C>T , CM000685.2:g.154413578C>T	GRCh38
NC_000023.10:g.153641915C>T , CM000685.1:g.153641915C>T	GRCh37
NC_000023.9:g.153295109C>T	NCBI36
NG_009634.1:g.7039C>T
NG_012884.2:g.3511G>A
NG_009634.2:g.7044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.904+11C>T
ENST00000698235.1:n.455C>T
ENST00000698317.1:n.1430+11C>T
ENST00000698318.1:n.1303+11C>T
ENST00000470127.2:n.648+11C>T
ENST00000475699.6:c.424+11C>T	ENSP00000419854.3:n.424+11C>T
ENST00000476800.2:n.1556+11C>T
ENST00000483674.3:n.261+11C>T
ENST00000601016.6:c.370+11C>T MANE Select	ENSP00000469981.1:n.370+11C>T
ENST00000612012.5:c.370+11C>T	ENSP00000482070.2:n.370+11C>T
ENST00000612460.5:c.370+11C>T	ENSP00000481037.1:n.370+11C>T
ENST00000614595.2:n.1807+11C>T
ENST00000615658.5:n.683+11C>T
ENST00000616020.5:c.424+11C>T	ENSP00000483636.2:n.424+11C>T
ENST00000617701.5:c.*188+11C>T	ENSP00000481645.1:n.*188+11C>T
ENST00000621647.2:n.663C>T
ENST00000652354.1:c.94+11C>T	ENSP00000498734.1:n.94+11C>T
ENST00000652358.1:c.163+11C>T	ENSP00000498464.1:n.163+11C>T
ENST00000652390.1:c.289+11C>T	ENSP00000498858.1:n.289+11C>T
ENST00000652476.1:n.760+11C>T
ENST00000652644.1:c.16+11C>T	ENSP00000498496.1:n.16+11C>T
ENST00000652682.1:c.370+11C>T	ENSP00000498288.1:n.370+11C>T
ENST00000652685.1:n.528+11C>T
ENST00000369776.8:c.295+11C>T	ENSP00000358791.4:n.295+11C>T
ENST00000426231.5:c.286+11C>T
ENST00000439735.2:c.370+11C>T	ENSP00000398193.1:n.370+11C>T
ENST00000470127.1:n.39+11C>T
ENST00000475699.5:c.370+11C>T	ENSP00000419854.2:n.370+11C>T
ENST00000476679.5:n.283+11C>T
ENST00000476800.1:n.477+11C>T
ENST00000483674.2:n.79+11C>T
ENST00000483780.5:n.144+11C>T
ENST00000601016.5:c.370+11C>T	ENSP00000469981.1:n.370+11C>T
ENST00000612012.4:c.424+11C>T	ENSP00000482070.1:n.424+11C>T
ENST00000612460.4:c.370+11C>T	ENSP00000481037.1:n.370+11C>T
ENST00000613002.4:c.370+11C>T	ENSP00000478154.1:n.370+11C>T
ENST00000613634.4:n.690+11C>T
ENST00000615658.4:n.783+11C>T
ENST00000615986.4:c.*188+11C>T	ENSP00000480133.1:n.*188+11C>T
ENST00000616020.4:c.424+11C>T	ENSP00000483636.1:n.424+11C>T
ENST00000620808.4:c.*169+11C>T	ENSP00000479311.1:n.*169+11C>T
ENST00000621647.1:n.895C>T
NM_000116.4:c.370+11C>T	NP_000107.1:n.370+11C>T
NM_001303465.1:c.424+11C>T	NP_001290394.1:n.424+11C>T
NM_181311.3:c.370+11C>T	NP_851828.1:n.370+11C>T
NM_181312.3:c.370+11C>T	NP_851829.1:n.370+11C>T
NM_181313.3:c.370+11C>T	NP_851830.1:n.370+11C>T
NR_024048.2:n.802+11C>T
XM_006724836.1:c.424+11C>T	XP_006724899.1:n.424+11C>T
XM_006724837.1:c.424+11C>T	XP_006724900.1:n.424+11C>T
XM_006724839.1:c.424+11C>T	XP_006724902.1:n.424+11C>T
XM_006724841.2:c.163+11C>T	XP_006724904.1:n.163+11C>T
XM_006724842.2:c.163+11C>T	XP_006724905.1:n.163+11C>T
XM_011531189.1:c.424+11C>T	XP_011529491.1:n.424+11C>T
XM_011531190.1:c.163+11C>T	XP_011529492.1:n.163+11C>T
XM_011531191.1:c.94+11C>T	XP_011529493.1:n.94+11C>T
XM_011531192.1:c.91+11C>T	XP_011529494.1:n.91+11C>T
XR_938511.1:n.727+11C>T
XM_006724841.4:c.163+11C>T	XP_006724904.1:n.163+11C>T
XM_006724842.4:c.163+11C>T	XP_006724905.1:n.163+11C>T
XM_011531191.2:c.94+11C>T	XP_011529493.1:n.94+11C>T
XM_017029761.1:c.370+11C>T	XP_016885250.1:n.370+11C>T
XM_017029762.1:c.424+11C>T	XP_016885251.1:n.424+11C>T
XM_017029763.1:c.370+11C>T	XP_016885252.1:n.370+11C>T
XM_017029764.1:c.91+11C>T	XP_016885253.1:n.91+11C>T
XM_017029765.2:c.163+11C>T	XP_016885254.1:n.163+11C>T
XM_024452431.1:c.424+11C>T	XP_024308199.1:n.424+11C>T
NM_000116.5:c.370+11C>T MANE Select	NP_000107.1:n.370+11C>T
NM_001303465.2:c.424+11C>T	NP_001290394.1:n.424+11C>T
NM_181311.4:c.370+11C>T	NP_851828.1:n.370+11C>T
NM_181312.4:c.370+11C>T	NP_851829.1:n.370+11C>T
NM_181313.4:c.370+11C>T	NP_851830.1:n.370+11C>T
NR_024048.3:n.781+11C>T