Canonical Allele Identifier: CA415183976

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648079A>G (hg19) ; chrX:g.154419740A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419740A>G , CM000685.2:g.154419740A>G	GRCh38
NC_000023.10:g.153648079A>G , CM000685.1:g.153648079A>G	GRCh37
NC_000023.9:g.153301273A>G	NCBI36
NG_009634.1:g.13203A>G
NG_009634.2:g.13206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1102A>G
ENST00000698317.1:n.1718A>G
ENST00000698318.1:n.1501A>G
ENST00000698319.1:n.864A>G
ENST00000698320.1:n.752A>G
ENST00000470127.2:n.765A>G
ENST00000475699.6:c.541A>G	ENSP00000419854.3:p.Lys181Glu
ENST00000483674.3:n.459A>G
ENST00000601016.6:c.577A>G MANE Select	ENSP00000469981.1:p.Lys193Glu
ENST00000612012.5:c.541+117A>G	ENSP00000482070.2:n.541+117A>G
ENST00000612460.5:c.487A>G	ENSP00000481037.1:p.Lys163Glu
ENST00000614595.2:n.1924A>G
ENST00000615658.5:n.881A>G
ENST00000616020.5:c.595+117A>G	ENSP00000483636.2:n.595+117A>G
ENST00000617701.5:c.*305A>G	ENSP00000481645.1:n.*305A>G
ENST00000652354.1:c.265+117A>G	ENSP00000498734.1:n.265+117A>G
ENST00000652358.1:c.370A>G	ENSP00000498464.1:p.Lys124Glu
ENST00000652390.1:c.496A>G	ENSP00000498858.1:p.Lys166Glu
ENST00000652476.1:n.958A>G
ENST00000652644.1:c.190A>G	ENSP00000498496.1:p.Lys64Glu
ENST00000652682.1:c.634A>G	ENSP00000498288.1:p.Lys212Glu
ENST00000652685.1:n.645A>G
ENST00000369776.8:c.376+117A>G	ENSP00000358791.4:n.376+117A>G
ENST00000426231.5:c.574A>G
ENST00000439735.2:c.484A>G	ENSP00000398193.1:p.Lys162Glu
ENST00000470127.1:n.156A>G
ENST00000475699.5:c.541+117A>G	ENSP00000419854.2:n.541+117A>G
ENST00000476679.5:n.571A>G
ENST00000483780.5:n.342A>G
ENST00000494912.5:n.1266A>G
ENST00000601016.5:c.577A>G	ENSP00000469981.1:p.Lys193Glu
ENST00000612012.4:c.541A>G	ENSP00000482070.1:p.Lys181Glu
ENST00000612460.4:c.487A>G	ENSP00000481037.1:p.Lys163Glu
ENST00000613002.4:c.451+117A>G	ENSP00000478154.1:n.451+117A>G
ENST00000613634.4:n.807A>G
ENST00000615658.4:n.981A>G
ENST00000615986.4:c.*305A>G	ENSP00000480133.1:n.*305A>G
ENST00000620808.4:c.*170-292A>G	ENSP00000479311.1:n.*170-292A>G
NM_000116.4:c.577A>G	NP_000107.1:p.Lys193Glu
NM_001303465.1:c.595+117A>G	NP_001290394.1:n.595+117A>G
NM_181311.3:c.487A>G	NP_851828.1:p.Lys163Glu
NM_181312.3:c.541+117A>G	NP_851829.1:n.541+117A>G
NM_181313.3:c.451+117A>G	NP_851830.1:n.451+117A>G
NR_024048.2:n.919A>G
XM_006724836.1:c.631A>G	XP_006724899.1:p.Lys211Glu
XM_006724837.1:c.505+117A>G	XP_006724900.1:n.505+117A>G
XM_006724839.1:c.505+117A>G	XP_006724902.1:n.505+117A>G
XM_006724841.2:c.370A>G	XP_006724904.1:p.Lys124Glu
XM_006724842.2:c.280A>G	XP_006724905.1:p.Lys94Glu
XM_011531189.1:c.425-292A>G	XP_011529491.1:n.425-292A>G
XM_011531190.1:c.370A>G	XP_011529492.1:p.Lys124Glu
XM_011531191.1:c.301A>G	XP_011529493.1:p.Lys101Glu
XM_011531192.1:c.298A>G	XP_011529494.1:p.Lys100Glu
XR_938511.1:n.925A>G
XM_006724841.4:c.370A>G	XP_006724904.1:p.Lys124Glu
XM_006724842.4:c.280A>G	XP_006724905.1:p.Lys94Glu
XM_011531191.2:c.301A>G	XP_011529493.1:p.Lys101Glu
XM_017029761.1:c.451+117A>G	XP_016885250.1:n.451+117A>G
XM_017029762.1:c.541A>G	XP_016885251.1:p.Lys181Glu
XM_017029763.1:c.371-292A>G	XP_016885252.1:n.371-292A>G
XM_017029764.1:c.298A>G	XP_016885253.1:p.Lys100Glu
XM_017029765.2:c.244+117A>G	XP_016885254.1:n.244+117A>G
XM_024452431.1:c.425-292A>G	XP_024308199.1:n.425-292A>G
NM_000116.5:c.577A>G MANE Select	NP_000107.1:p.Lys193Glu
NM_001303465.2:c.595+117A>G	NP_001290394.1:n.595+117A>G
NM_181311.4:c.487A>G	NP_851828.1:p.Lys163Glu
NM_181312.4:c.541+117A>G	NP_851829.1:n.541+117A>G
NM_181313.4:c.451+117A>G	NP_851830.1:n.451+117A>G
NR_024048.3:n.898A>G