Canonical Allele Identifier: CA2466675304

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068379750

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413384G>T , CM000685.2:g.154413384G>T	GRCh38
NC_000023.10:g.153641721G>T , CM000685.1:g.153641721G>T	GRCh37
NC_000023.9:g.153294915G>T	NCBI36
NG_009634.1:g.6845G>T
NG_012884.2:g.3705C>A
NG_009634.2:g.6850G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.818+26G>T
ENST00000698235.1:n.358+45G>T
ENST00000698317.1:n.1344+26G>T
ENST00000698318.1:n.1217+14G>T
ENST00000470127.2:n.465G>T
ENST00000475699.6:c.339-98G>T	ENSP00000419854.3:n.339-98G>T
ENST00000476800.2:n.1373G>T
ENST00000483674.3:n.176-98G>T
ENST00000601016.6:c.285-98G>T MANE Select	ENSP00000469981.1:n.285-98G>T
ENST00000612012.5:c.285-98G>T	ENSP00000482070.2:n.285-98G>T
ENST00000612460.5:c.285-98G>T	ENSP00000481037.1:n.285-98G>T
ENST00000614595.2:n.1721+45G>T
ENST00000615658.5:n.598-98G>T
ENST00000616020.5:c.339-98G>T	ENSP00000483636.2:n.339-98G>T
ENST00000617701.5:c.*102+26G>T	ENSP00000481645.1:n.*102+26G>T
ENST00000621647.2:n.469G>T
ENST00000652354.1:c.9-98G>T	ENSP00000498734.1:n.9-98G>T
ENST00000652358.1:c.77+45G>T	ENSP00000498464.1:n.77+45G>T
ENST00000652390.1:c.204-98G>T	ENSP00000498858.1:n.204-98G>T
ENST00000652476.1:n.577G>T
ENST00000652682.1:c.285-98G>T	ENSP00000498288.1:n.285-98G>T
ENST00000652685.1:n.442+26G>T
ENST00000369776.8:c.210-98G>T	ENSP00000358791.4:n.210-98G>T
ENST00000426231.5:c.200+32G>T
ENST00000439735.2:c.285-98G>T	ENSP00000398193.1:n.285-98G>T
ENST00000475699.5:c.285-98G>T	ENSP00000419854.2:n.285-98G>T
ENST00000476679.5:n.198-98G>T
ENST00000476800.1:n.294G>T
ENST00000479875.1:n.314-98G>T
ENST00000483780.5:n.59-98G>T
ENST00000601016.5:c.285-98G>T	ENSP00000469981.1:n.285-98G>T
ENST00000612012.4:c.339-98G>T	ENSP00000482070.1:n.339-98G>T
ENST00000612460.4:c.285-98G>T	ENSP00000481037.1:n.285-98G>T
ENST00000613002.4:c.285-98G>T	ENSP00000478154.1:n.285-98G>T
ENST00000613634.4:n.605-98G>T
ENST00000615658.4:n.697+45G>T
ENST00000615986.4:c.*102+26G>T	ENSP00000480133.1:n.*102+26G>T
ENST00000616020.4:c.339-98G>T	ENSP00000483636.1:n.339-98G>T
ENST00000617701.4:c.*114+14G>T	ENSP00000481645.1:n.*114+14G>T
ENST00000620808.4:c.*83+45G>T	ENSP00000479311.1:n.*83+45G>T
ENST00000621647.1:n.701G>T
NM_000116.4:c.285-98G>T	NP_000107.1:n.285-98G>T
NM_001303465.1:c.339-98G>T	NP_001290394.1:n.339-98G>T
NM_181311.3:c.285-98G>T	NP_851828.1:n.285-98G>T
NM_181312.3:c.285-98G>T	NP_851829.1:n.285-98G>T
NM_181313.3:c.285-98G>T	NP_851830.1:n.285-98G>T
NR_024048.2:n.716+26G>T
XM_006724836.1:c.339-98G>T	XP_006724899.1:n.339-98G>T
XM_006724837.1:c.339-98G>T	XP_006724900.1:n.339-98G>T
XM_006724839.1:c.339-98G>T	XP_006724902.1:n.339-98G>T
XM_006724841.2:c.77+45G>T	XP_006724904.1:n.77+45G>T
XM_006724842.2:c.77+45G>T	XP_006724905.1:n.77+45G>T
XM_011531189.1:c.339-98G>T	XP_011529491.1:n.339-98G>T
XM_011531190.1:c.77+45G>T	XP_011529492.1:n.77+45G>T
XM_011531191.1:c.9-98G>T	XP_011529493.1:n.9-98G>T
XM_011531192.1:c.5+14G>T	XP_011529494.1:n.5+14G>T
XR_938511.1:n.642-98G>T
XM_006724841.4:c.77+45G>T	XP_006724904.1:n.77+45G>T
XM_006724842.4:c.77+45G>T	XP_006724905.1:n.77+45G>T
XM_011531191.2:c.9-98G>T	XP_011529493.1:n.9-98G>T
XM_017029761.1:c.285-98G>T	XP_016885250.1:n.285-98G>T
XM_017029762.1:c.339-98G>T	XP_016885251.1:n.339-98G>T
XM_017029763.1:c.285-98G>T	XP_016885252.1:n.285-98G>T
XM_017029764.1:c.5+14G>T	XP_016885253.1:n.5+14G>T
XM_017029765.2:c.77+45G>T	XP_016885254.1:n.77+45G>T
XM_024452431.1:c.339-98G>T	XP_024308199.1:n.339-98G>T
NM_000116.5:c.285-98G>T MANE Select	NP_000107.1:n.285-98G>T
NM_001303465.2:c.339-98G>T	NP_001290394.1:n.339-98G>T
NM_181311.4:c.285-98G>T	NP_851828.1:n.285-98G>T
NM_181312.4:c.285-98G>T	NP_851829.1:n.285-98G>T
NM_181313.4:c.285-98G>T	NP_851830.1:n.285-98G>T
NR_024048.3:n.695+26G>T