Canonical Allele Identifier: CA2697544784

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2760449
• ClinVar RCV Id: RCV003512465

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420021C>A , CM000685.2:g.154420021C>A	GRCh38
NC_000023.10:g.153648360C>A , CM000685.1:g.153648360C>A	GRCh37
NC_000023.9:g.153301554C>A	NCBI36
NG_009634.1:g.13484C>A
NG_009634.2:g.13487C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1383C>A
ENST00000698317.1:n.1999C>A
ENST00000698318.1:n.1782C>A
ENST00000698319.1:n.1145C>A
ENST00000698320.1:n.1033C>A
ENST00000470127.2:n.1046C>A
ENST00000475699.6:c.548-11C>A	ENSP00000419854.3:n.548-11C>A
ENST00000483674.3:n.466-11C>A
ENST00000601016.6:c.584-11C>A MANE Select	ENSP00000469981.1:n.584-11C>A
ENST00000612012.5:c.542-11C>A	ENSP00000482070.2:n.542-11C>A
ENST00000612460.5:c.494-11C>A	ENSP00000481037.1:n.494-11C>A
ENST00000614595.2:n.1931-11C>A
ENST00000615658.5:n.1162C>A
ENST00000616020.5:c.596-11C>A	ENSP00000483636.2:n.596-11C>A
ENST00000617701.5:c.*586C>A	ENSP00000481645.1:n.*586C>A
ENST00000652354.1:c.266-11C>A	ENSP00000498734.1:n.266-11C>A
ENST00000652358.1:c.377-11C>A	ENSP00000498464.1:n.377-11C>A
ENST00000652390.1:c.503-11C>A	ENSP00000498858.1:n.503-11C>A
ENST00000652476.1:n.1239C>A
ENST00000652644.1:c.197-11C>A	ENSP00000498496.1:n.197-11C>A
ENST00000652682.1:c.641-11C>A	ENSP00000498288.1:n.641-11C>A
ENST00000652685.1:n.926C>A
ENST00000369776.8:c.377-11C>A	ENSP00000358791.4:n.377-11C>A
ENST00000426231.5:c.581-11C>A
ENST00000439735.2:c.491-11C>A	ENSP00000398193.1:n.491-11C>A
ENST00000470127.1:n.163-11C>A
ENST00000475699.5:c.542-11C>A	ENSP00000419854.2:n.542-11C>A
ENST00000494912.5:n.1273-11C>A
ENST00000498029.1:n.31C>A
ENST00000601016.5:c.584-11C>A	ENSP00000469981.1:n.584-11C>A
ENST00000612012.4:c.548-11C>A	ENSP00000482070.1:n.548-11C>A
ENST00000612460.4:c.494-11C>A	ENSP00000481037.1:n.494-11C>A
ENST00000613002.4:c.452-11C>A	ENSP00000478154.1:n.452-11C>A
ENST00000613634.4:n.1088C>A
ENST00000615658.4:n.1262C>A
ENST00000615986.4:c.*312-11C>A	ENSP00000480133.1:n.*312-11C>A
ENST00000620808.4:c.*170-11C>A	ENSP00000479311.1:n.*170-11C>A
NM_000116.4:c.584-11C>A	NP_000107.1:n.584-11C>A
NM_001303465.1:c.596-11C>A	NP_001290394.1:n.596-11C>A
NM_181311.3:c.494-11C>A	NP_851828.1:n.494-11C>A
NM_181312.3:c.542-11C>A	NP_851829.1:n.542-11C>A
NM_181313.3:c.452-11C>A	NP_851830.1:n.452-11C>A
NR_024048.2:n.926-11C>A
XM_006724836.1:c.638-11C>A	XP_006724899.1:n.638-11C>A
XM_006724837.1:c.506-11C>A	XP_006724900.1:n.506-11C>A
XM_006724839.1:c.506-11C>A	XP_006724902.1:n.506-11C>A
XM_006724841.2:c.377-11C>A	XP_006724904.1:n.377-11C>A
XM_006724842.2:c.287-11C>A	XP_006724905.1:n.287-11C>A
XM_011531189.1:c.425-11C>A	XP_011529491.1:n.425-11C>A
XM_011531190.1:c.377-11C>A	XP_011529492.1:n.377-11C>A
XM_011531191.1:c.308-11C>A	XP_011529493.1:n.308-11C>A
XM_011531192.1:c.305-11C>A	XP_011529494.1:n.305-11C>A
XR_938511.1:n.932-11C>A
XM_006724841.4:c.377-11C>A	XP_006724904.1:n.377-11C>A
XM_006724842.4:c.287-11C>A	XP_006724905.1:n.287-11C>A
XM_011531191.2:c.308-11C>A	XP_011529493.1:n.308-11C>A
XM_017029761.1:c.452-11C>A	XP_016885250.1:n.452-11C>A
XM_017029762.1:c.548-11C>A	XP_016885251.1:n.548-11C>A
XM_017029763.1:c.371-11C>A	XP_016885252.1:n.371-11C>A
XM_017029764.1:c.305-11C>A	XP_016885253.1:n.305-11C>A
XM_017029765.2:c.245-11C>A	XP_016885254.1:n.245-11C>A
XM_024452431.1:c.425-11C>A	XP_024308199.1:n.425-11C>A
NM_000116.5:c.584-11C>A MANE Select	NP_000107.1:n.584-11C>A
NM_001303465.2:c.596-11C>A	NP_001290394.1:n.596-11C>A
NM_181311.4:c.494-11C>A	NP_851828.1:n.494-11C>A
NM_181312.4:c.542-11C>A	NP_851829.1:n.542-11C>A
NM_181313.4:c.452-11C>A	NP_851830.1:n.452-11C>A
NR_024048.3:n.905-11C>A