Canonical Allele Identifier: CA415185234

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2626100
• ClinVar RCV Id: RCV003382080
• MyVariant Identifiers: chrX:g.153648593G>T (hg19) ; chrX:g.154420254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420254G>T , CM000685.2:g.154420254G>T	GRCh38
NC_000023.10:g.153648593G>T , CM000685.1:g.153648593G>T	GRCh37
NC_000023.9:g.153301787G>T	NCBI36
NG_009634.1:g.13717G>T
NG_009634.2:g.13720G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1499G>T
ENST00000698317.1:n.2115G>T
ENST00000698318.1:n.1898G>T
ENST00000698319.1:n.1261G>T
ENST00000698320.1:n.1149G>T
ENST00000470127.2:n.1162G>T
ENST00000475699.6:c.653G>T	ENSP00000419854.3:p.Arg218Leu
ENST00000483674.3:n.571G>T
ENST00000601016.6:c.689G>T MANE Select	ENSP00000469981.1:p.Arg230Leu
ENST00000612012.5:c.647G>T	ENSP00000482070.2:p.Arg216Leu
ENST00000612460.5:c.599G>T	ENSP00000481037.1:p.Arg200Leu
ENST00000614595.2:n.2036G>T
ENST00000615658.5:n.1278G>T
ENST00000616020.5:c.701G>T	ENSP00000483636.2:p.Arg234Leu
ENST00000617701.5:c.*702G>T	ENSP00000481645.1:n.*702G>T
ENST00000652354.1:c.371G>T	ENSP00000498734.1:p.Arg124Leu
ENST00000652358.1:c.482G>T	ENSP00000498464.1:p.Arg161Leu
ENST00000652390.1:c.608G>T	ENSP00000498858.1:p.Arg203Leu
ENST00000652476.1:n.1355G>T
ENST00000652644.1:c.302G>T	ENSP00000498496.1:p.Arg101Leu
ENST00000652682.1:c.746G>T	ENSP00000498288.1:p.Arg249Leu
ENST00000652685.1:n.1042G>T
ENST00000369776.8:c.599G>T	ENSP00000358791.4:p.Arg200Leu
ENST00000426231.5:c.686G>T
ENST00000475699.5:c.647G>T	ENSP00000419854.2:p.Arg216Leu
ENST00000494912.5:n.1378G>T
ENST00000498029.1:n.147G>T
ENST00000601016.5:c.689G>T	ENSP00000469981.1:p.Arg230Leu
ENST00000612460.4:c.599G>T	ENSP00000481037.1:p.Arg200Leu
ENST00000613002.4:c.557G>T	ENSP00000478154.1:p.Arg186Leu
ENST00000615986.4:c.*417G>T	ENSP00000480133.1:n.*417G>T
NM_000116.4:c.689G>T	NP_000107.1:p.Arg230Leu
NM_001303465.1:c.701G>T	NP_001290394.1:p.Arg234Leu
NM_181311.3:c.599G>T	NP_851828.1:p.Arg200Leu
NM_181312.3:c.647G>T	NP_851829.1:p.Arg216Leu
NM_181313.3:c.557G>T	NP_851830.1:p.Arg186Leu
NR_024048.2:n.1031G>T
XM_006724836.1:c.743G>T	XP_006724899.1:p.Arg248Leu
XM_006724837.1:c.728G>T	XP_006724900.1:p.Arg243Leu
XM_006724839.1:c.611G>T	XP_006724902.1:p.Arg204Leu
XM_006724841.2:c.482G>T	XP_006724904.1:p.Arg161Leu
XM_006724842.2:c.392G>T	XP_006724905.1:p.Arg131Leu
XM_011531189.1:c.530G>T	XP_011529491.1:p.Arg177Leu
XM_011531190.1:c.482G>T	XP_011529492.1:p.Arg161Leu
XM_011531191.1:c.413G>T	XP_011529493.1:p.Arg138Leu
XM_011531192.1:c.410G>T	XP_011529494.1:p.Arg137Leu
XR_938511.1:n.1037G>T
XM_006724841.4:c.482G>T	XP_006724904.1:p.Arg161Leu
XM_006724842.4:c.392G>T	XP_006724905.1:p.Arg131Leu
XM_011531191.2:c.413G>T	XP_011529493.1:p.Arg138Leu
XM_017029761.1:c.674G>T	XP_016885250.1:p.Arg225Leu
XM_017029762.1:c.653G>T	XP_016885251.1:p.Arg218Leu
XM_017029763.1:c.476G>T	XP_016885252.1:p.Arg159Leu
XM_017029764.1:c.410G>T	XP_016885253.1:p.Arg137Leu
XM_017029765.2:c.350G>T	XP_016885254.1:p.Arg117Leu
XM_024452431.1:c.647G>T	XP_024308199.1:p.Arg216Leu
NM_000116.5:c.689G>T MANE Select	NP_000107.1:p.Arg230Leu
NM_001303465.2:c.701G>T	NP_001290394.1:p.Arg234Leu
NM_181311.4:c.599G>T	NP_851828.1:p.Arg200Leu
NM_181312.4:c.647G>T	NP_851829.1:p.Arg216Leu
NM_181313.4:c.557G>T	NP_851830.1:p.Arg186Leu
NR_024048.3:n.1010G>T