Canonical Allele Identifier: CA2580101828

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1944149
• ClinVar RCV Id: RCV002663113

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420023C>G , CM000685.2:g.154420023C>G	GRCh38
NC_000023.10:g.153648362C>G , CM000685.1:g.153648362C>G	GRCh37
NC_000023.9:g.153301556C>G	NCBI36
NG_009634.1:g.13486C>G
NG_009634.2:g.13489C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1385C>G
ENST00000698317.1:n.2001C>G
ENST00000698318.1:n.1784C>G
ENST00000698319.1:n.1147C>G
ENST00000698320.1:n.1035C>G
ENST00000470127.2:n.1048C>G
ENST00000475699.6:c.548-9C>G	ENSP00000419854.3:n.548-9C>G
ENST00000483674.3:n.466-9C>G
ENST00000601016.6:c.584-9C>G MANE Select	ENSP00000469981.1:n.584-9C>G
ENST00000612012.5:c.542-9C>G	ENSP00000482070.2:n.542-9C>G
ENST00000612460.5:c.494-9C>G	ENSP00000481037.1:n.494-9C>G
ENST00000614595.2:n.1931-9C>G
ENST00000615658.5:n.1164C>G
ENST00000616020.5:c.596-9C>G	ENSP00000483636.2:n.596-9C>G
ENST00000617701.5:c.*588C>G	ENSP00000481645.1:n.*588C>G
ENST00000652354.1:c.266-9C>G	ENSP00000498734.1:n.266-9C>G
ENST00000652358.1:c.377-9C>G	ENSP00000498464.1:n.377-9C>G
ENST00000652390.1:c.503-9C>G	ENSP00000498858.1:n.503-9C>G
ENST00000652476.1:n.1241C>G
ENST00000652644.1:c.197-9C>G	ENSP00000498496.1:n.197-9C>G
ENST00000652682.1:c.641-9C>G	ENSP00000498288.1:n.641-9C>G
ENST00000652685.1:n.928C>G
ENST00000369776.8:c.377-9C>G	ENSP00000358791.4:n.377-9C>G
ENST00000426231.5:c.581-9C>G
ENST00000439735.2:c.491-9C>G	ENSP00000398193.1:n.491-9C>G
ENST00000470127.1:n.163-9C>G
ENST00000475699.5:c.542-9C>G	ENSP00000419854.2:n.542-9C>G
ENST00000494912.5:n.1273-9C>G
ENST00000498029.1:n.33C>G
ENST00000601016.5:c.584-9C>G	ENSP00000469981.1:n.584-9C>G
ENST00000612012.4:c.548-9C>G	ENSP00000482070.1:n.548-9C>G
ENST00000612460.4:c.494-9C>G	ENSP00000481037.1:n.494-9C>G
ENST00000613002.4:c.452-9C>G	ENSP00000478154.1:n.452-9C>G
ENST00000613634.4:n.1090C>G
ENST00000615658.4:n.1264C>G
ENST00000615986.4:c.*312-9C>G	ENSP00000480133.1:n.*312-9C>G
ENST00000620808.4:c.*170-9C>G	ENSP00000479311.1:n.*170-9C>G
NM_000116.4:c.584-9C>G	NP_000107.1:n.584-9C>G
NM_001303465.1:c.596-9C>G	NP_001290394.1:n.596-9C>G
NM_181311.3:c.494-9C>G	NP_851828.1:n.494-9C>G
NM_181312.3:c.542-9C>G	NP_851829.1:n.542-9C>G
NM_181313.3:c.452-9C>G	NP_851830.1:n.452-9C>G
NR_024048.2:n.926-9C>G
XM_006724836.1:c.638-9C>G	XP_006724899.1:n.638-9C>G
XM_006724837.1:c.506-9C>G	XP_006724900.1:n.506-9C>G
XM_006724839.1:c.506-9C>G	XP_006724902.1:n.506-9C>G
XM_006724841.2:c.377-9C>G	XP_006724904.1:n.377-9C>G
XM_006724842.2:c.287-9C>G	XP_006724905.1:n.287-9C>G
XM_011531189.1:c.425-9C>G	XP_011529491.1:n.425-9C>G
XM_011531190.1:c.377-9C>G	XP_011529492.1:n.377-9C>G
XM_011531191.1:c.308-9C>G	XP_011529493.1:n.308-9C>G
XM_011531192.1:c.305-9C>G	XP_011529494.1:n.305-9C>G
XR_938511.1:n.932-9C>G
XM_006724841.4:c.377-9C>G	XP_006724904.1:n.377-9C>G
XM_006724842.4:c.287-9C>G	XP_006724905.1:n.287-9C>G
XM_011531191.2:c.308-9C>G	XP_011529493.1:n.308-9C>G
XM_017029761.1:c.452-9C>G	XP_016885250.1:n.452-9C>G
XM_017029762.1:c.548-9C>G	XP_016885251.1:n.548-9C>G
XM_017029763.1:c.371-9C>G	XP_016885252.1:n.371-9C>G
XM_017029764.1:c.305-9C>G	XP_016885253.1:n.305-9C>G
XM_017029765.2:c.245-9C>G	XP_016885254.1:n.245-9C>G
XM_024452431.1:c.425-9C>G	XP_024308199.1:n.425-9C>G
NM_000116.5:c.584-9C>G MANE Select	NP_000107.1:n.584-9C>G
NM_001303465.2:c.596-9C>G	NP_001290394.1:n.596-9C>G
NM_181311.4:c.494-9C>G	NP_851828.1:n.494-9C>G
NM_181312.4:c.542-9C>G	NP_851829.1:n.542-9C>G
NM_181313.4:c.452-9C>G	NP_851830.1:n.452-9C>G
NR_024048.3:n.905-9C>G