Canonical Allele Identifier: CA308797

Gene: TAFAZZIN

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412130G>T , CM000685.2:g.154412130G>T	GRCh38
NC_000023.10:g.153640467G>T , CM000685.1:g.153640467G>T	GRCh37
NC_000023.9:g.153293661G>T	NCBI36
NG_009634.1:g.5591G>T
NG_012884.2:g.4959C>A
NG_009634.2:g.5596G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.582G>T
ENST00000698235.1:n.141G>T
ENST00000698317.1:n.116G>T
ENST00000475699.6:c.208G>T	ENSP00000419854.3:p.Glu70Ter
ENST00000476800.2:n.119G>T
ENST00000483674.3:n.45G>T
ENST00000601016.6:c.154G>T MANE Select	ENSP00000469981.1:p.Glu52Ter
ENST00000612012.5:c.154G>T	ENSP00000482070.2:p.Glu52Ter
ENST00000612460.5:c.154G>T	ENSP00000481037.1:p.Glu52Ter
ENST00000614595.2:n.512G>T
ENST00000615658.5:n.467G>T
ENST00000616020.5:c.208G>T	ENSP00000483636.2:p.Glu70Ter
ENST00000617701.5:c.154G>T	ENSP00000481645.1:p.Glu52Ter
ENST00000621647.2:n.207G>T
ENST00000652358.1:c.-57+178G>T	ENSP00000498464.1:n.-57+178G>T
ENST00000652390.1:c.73G>T	ENSP00000498858.1:p.Glu25Ter
ENST00000652476.1:n.315G>T
ENST00000652682.1:c.154G>T	ENSP00000498288.1:p.Glu52Ter
ENST00000652685.1:n.206G>T
ENST00000369776.8:c.163+124G>T	ENSP00000358791.4:n.163+124G>T
ENST00000439735.2:c.154G>T	ENSP00000398193.1:p.Glu52Ter
ENST00000475699.5:c.154G>T	ENSP00000419854.2:p.Glu52Ter
ENST00000601016.5:c.154G>T	ENSP00000469981.1:p.Glu52Ter
ENST00000612012.4:c.208G>T	ENSP00000482070.1:p.Glu70Ter
ENST00000612460.4:c.154G>T	ENSP00000481037.1:p.Glu52Ter
ENST00000613002.4:c.154G>T	ENSP00000478154.1:p.Glu52Ter
ENST00000613634.4:n.474G>T
ENST00000614595.1:n.373G>T
ENST00000615658.4:n.480G>T
ENST00000615986.4:c.154G>T	ENSP00000480133.1:p.Glu52Ter
ENST00000616020.4:c.208G>T	ENSP00000483636.1:p.Glu70Ter
ENST00000617701.4:c.154G>T	ENSP00000481645.1:p.Glu52Ter
ENST00000620808.4:c.154G>T	ENSP00000479311.1:p.Glu52Ter
ENST00000621647.1:n.439G>T
NM_000116.4:c.154G>T	NP_000107.1:p.Glu52Ter
NM_001303465.1:c.208G>T	NP_001290394.1:p.Glu70Ter
NM_181311.3:c.154G>T	NP_851828.1:p.Glu52Ter
NM_181312.3:c.154G>T	NP_851829.1:p.Glu52Ter
NM_181313.3:c.154G>T	NP_851830.1:p.Glu52Ter
NR_024048.2:n.480G>T
XM_006724836.1:c.208G>T	XP_006724899.1:p.Glu70Ter
XM_006724837.1:c.208G>T	XP_006724900.1:p.Glu70Ter
XM_006724839.1:c.208G>T	XP_006724902.1:p.Glu70Ter
XM_006724841.2:c.-141G>T	XP_006724904.1:n.-141G>T
XM_006724842.2:c.-141G>T	XP_006724905.1:n.-141G>T
XM_011531189.1:c.208G>T	XP_011529491.1:p.Glu70Ter
XR_938511.1:n.511G>T
XM_006724841.4:c.-141G>T	XP_006724904.1:n.-141G>T
XM_006724842.4:c.-141G>T	XP_006724905.1:n.-141G>T
XM_017029761.1:c.154G>T	XP_016885250.1:p.Glu52Ter
XM_017029762.1:c.208G>T	XP_016885251.1:p.Glu70Ter
XM_017029763.1:c.154G>T	XP_016885252.1:p.Glu52Ter
XM_017029765.2:c.-141G>T	XP_016885254.1:n.-141G>T
XM_024452431.1:c.208G>T	XP_024308199.1:p.Glu70Ter
NM_000116.5:c.154G>T MANE Select	NP_000107.1:p.Glu52Ter
NM_001303465.2:c.208G>T	NP_001290394.1:p.Glu70Ter
NM_181311.4:c.154G>T	NP_851828.1:p.Glu52Ter
NM_181312.4:c.154G>T	NP_851829.1:p.Glu52Ter
NM_181313.4:c.154G>T	NP_851830.1:p.Glu52Ter
NR_024048.3:n.459G>T