Canonical Allele Identifier: CA415181988

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506885
• ClinVar RCV Id: RCV003237254
• MyVariant Identifiers: chrX:g.153641883A>G (hg19) ; chrX:g.154413546A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413546A>G , CM000685.2:g.154413546A>G	GRCh38
NC_000023.10:g.153641883A>G , CM000685.1:g.153641883A>G	GRCh37
NC_000023.9:g.153295077A>G	NCBI36
NG_009634.1:g.7007A>G
NG_012884.2:g.3543T>C
NG_009634.2:g.7012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.883A>G
ENST00000698235.1:n.423A>G
ENST00000698317.1:n.1409A>G
ENST00000698318.1:n.1282A>G
ENST00000470127.2:n.627A>G
ENST00000475699.6:c.403A>G	ENSP00000419854.3:p.Lys135Glu
ENST00000476800.2:n.1535A>G
ENST00000483674.3:n.240A>G
ENST00000601016.6:c.349A>G MANE Select	ENSP00000469981.1:p.Lys117Glu
ENST00000612012.5:c.349A>G	ENSP00000482070.2:p.Lys117Glu
ENST00000612460.5:c.349A>G	ENSP00000481037.1:p.Lys117Glu
ENST00000614595.2:n.1786A>G
ENST00000615658.5:n.662A>G
ENST00000616020.5:c.403A>G	ENSP00000483636.2:p.Lys135Glu
ENST00000617701.5:c.*167A>G	ENSP00000481645.1:n.*167A>G
ENST00000621647.2:n.631A>G
ENST00000652354.1:c.73A>G	ENSP00000498734.1:p.Lys25Glu
ENST00000652358.1:c.142A>G	ENSP00000498464.1:p.Lys48Glu
ENST00000652390.1:c.268A>G	ENSP00000498858.1:p.Lys90Glu
ENST00000652476.1:n.739A>G
ENST00000652682.1:c.349A>G	ENSP00000498288.1:p.Lys117Glu
ENST00000652685.1:n.507A>G
ENST00000369776.8:c.274A>G	ENSP00000358791.4:p.Lys92Glu
ENST00000426231.5:c.265A>G
ENST00000439735.2:c.349A>G	ENSP00000398193.1:p.Lys117Glu
ENST00000470127.1:n.18A>G
ENST00000475699.5:c.349A>G	ENSP00000419854.2:p.Lys117Glu
ENST00000476679.5:n.262A>G
ENST00000476800.1:n.456A>G
ENST00000479875.1:n.378A>G
ENST00000483674.2:n.58A>G
ENST00000483780.5:n.123A>G
ENST00000601016.5:c.349A>G	ENSP00000469981.1:p.Lys117Glu
ENST00000612012.4:c.403A>G	ENSP00000482070.1:p.Lys135Glu
ENST00000612460.4:c.349A>G	ENSP00000481037.1:p.Lys117Glu
ENST00000613002.4:c.349A>G	ENSP00000478154.1:p.Lys117Glu
ENST00000613634.4:n.669A>G
ENST00000615658.4:n.762A>G
ENST00000615986.4:c.*167A>G	ENSP00000480133.1:n.*167A>G
ENST00000616020.4:c.403A>G	ENSP00000483636.1:p.Lys135Glu
ENST00000617701.4:c.*179A>G	ENSP00000481645.1:n.*179A>G
ENST00000620808.4:c.*148A>G	ENSP00000479311.1:n.*148A>G
ENST00000621647.1:n.863A>G
NM_000116.4:c.349A>G	NP_000107.1:p.Lys117Glu
NM_001303465.1:c.403A>G	NP_001290394.1:p.Lys135Glu
NM_181311.3:c.349A>G	NP_851828.1:p.Lys117Glu
NM_181312.3:c.349A>G	NP_851829.1:p.Lys117Glu
NM_181313.3:c.349A>G	NP_851830.1:p.Lys117Glu
NR_024048.2:n.781A>G
XM_006724836.1:c.403A>G	XP_006724899.1:p.Lys135Glu
XM_006724837.1:c.403A>G	XP_006724900.1:p.Lys135Glu
XM_006724839.1:c.403A>G	XP_006724902.1:p.Lys135Glu
XM_006724841.2:c.142A>G	XP_006724904.1:p.Lys48Glu
XM_006724842.2:c.142A>G	XP_006724905.1:p.Lys48Glu
XM_011531189.1:c.403A>G	XP_011529491.1:p.Lys135Glu
XM_011531190.1:c.142A>G	XP_011529492.1:p.Lys48Glu
XM_011531191.1:c.73A>G	XP_011529493.1:p.Lys25Glu
XM_011531192.1:c.70A>G	XP_011529494.1:p.Lys24Glu
XR_938511.1:n.706A>G
XM_006724841.4:c.142A>G	XP_006724904.1:p.Lys48Glu
XM_006724842.4:c.142A>G	XP_006724905.1:p.Lys48Glu
XM_011531191.2:c.73A>G	XP_011529493.1:p.Lys25Glu
XM_017029761.1:c.349A>G	XP_016885250.1:p.Lys117Glu
XM_017029762.1:c.403A>G	XP_016885251.1:p.Lys135Glu
XM_017029763.1:c.349A>G	XP_016885252.1:p.Lys117Glu
XM_017029764.1:c.70A>G	XP_016885253.1:p.Lys24Glu
XM_017029765.2:c.142A>G	XP_016885254.1:p.Lys48Glu
XM_024452431.1:c.403A>G	XP_024308199.1:p.Lys135Glu
NM_000116.5:c.349A>G MANE Select	NP_000107.1:p.Lys117Glu
NM_001303465.2:c.403A>G	NP_001290394.1:p.Lys135Glu
NM_181311.4:c.349A>G	NP_851828.1:p.Lys117Glu
NM_181312.4:c.349A>G	NP_851829.1:p.Lys117Glu
NM_181313.4:c.349A>G	NP_851830.1:p.Lys117Glu
NR_024048.3:n.760A>G