Canonical Allele Identifier: CA415184385

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506888
• ClinVar RCV Id: RCV003237257
• MyVariant Identifiers: chrX:g.153648422T>C (hg19) ; chrX:g.154420083T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420083T>C , CM000685.2:g.154420083T>C	GRCh38
NC_000023.10:g.153648422T>C , CM000685.1:g.153648422T>C	GRCh37
NC_000023.9:g.153301616T>C	NCBI36
NG_009634.1:g.13546T>C
NG_009634.2:g.13549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1445T>C
ENST00000698317.1:n.2061T>C
ENST00000698318.1:n.1844T>C
ENST00000698319.1:n.1207T>C
ENST00000698320.1:n.1095T>C
ENST00000470127.2:n.1108T>C
ENST00000475699.6:c.599T>C	ENSP00000419854.3:p.Leu200Pro
ENST00000483674.3:n.517T>C
ENST00000601016.6:c.635T>C MANE Select	ENSP00000469981.1:p.Leu212Pro
ENST00000612012.5:c.593T>C	ENSP00000482070.2:p.Leu198Pro
ENST00000612460.5:c.545T>C	ENSP00000481037.1:p.Leu182Pro
ENST00000614595.2:n.1982T>C
ENST00000615658.5:n.1224T>C
ENST00000616020.5:c.647T>C	ENSP00000483636.2:p.Leu216Pro
ENST00000617701.5:c.*648T>C	ENSP00000481645.1:n.*648T>C
ENST00000652354.1:c.317T>C	ENSP00000498734.1:p.Leu106Pro
ENST00000652358.1:c.428T>C	ENSP00000498464.1:p.Leu143Pro
ENST00000652390.1:c.554T>C	ENSP00000498858.1:p.Leu185Pro
ENST00000652476.1:n.1301T>C
ENST00000652644.1:c.248T>C	ENSP00000498496.1:p.Leu83Pro
ENST00000652682.1:c.692T>C	ENSP00000498288.1:p.Leu231Pro
ENST00000652685.1:n.988T>C
ENST00000369776.8:c.428T>C	ENSP00000358791.4:p.Leu143Pro
ENST00000426231.5:c.632T>C
ENST00000439735.2:c.542T>C	ENSP00000398193.1:p.Leu181Pro
ENST00000470127.1:n.214T>C
ENST00000475699.5:c.593T>C	ENSP00000419854.2:p.Leu198Pro
ENST00000494912.5:n.1324T>C
ENST00000498029.1:n.93T>C
ENST00000601016.5:c.635T>C	ENSP00000469981.1:p.Leu212Pro
ENST00000612460.4:c.545T>C	ENSP00000481037.1:p.Leu182Pro
ENST00000613002.4:c.503T>C	ENSP00000478154.1:p.Leu168Pro
ENST00000615986.4:c.*363T>C	ENSP00000480133.1:n.*363T>C
NM_000116.4:c.635T>C	NP_000107.1:p.Leu212Pro
NM_001303465.1:c.647T>C	NP_001290394.1:p.Leu216Pro
NM_181311.3:c.545T>C	NP_851828.1:p.Leu182Pro
NM_181312.3:c.593T>C	NP_851829.1:p.Leu198Pro
NM_181313.3:c.503T>C	NP_851830.1:p.Leu168Pro
NR_024048.2:n.977T>C
XM_006724836.1:c.689T>C	XP_006724899.1:p.Leu230Pro
XM_006724837.1:c.557T>C	XP_006724900.1:p.Leu186Pro
XM_006724839.1:c.557T>C	XP_006724902.1:p.Leu186Pro
XM_006724841.2:c.428T>C	XP_006724904.1:p.Leu143Pro
XM_006724842.2:c.338T>C	XP_006724905.1:p.Leu113Pro
XM_011531189.1:c.476T>C	XP_011529491.1:p.Leu159Pro
XM_011531190.1:c.428T>C	XP_011529492.1:p.Leu143Pro
XM_011531191.1:c.359T>C	XP_011529493.1:p.Leu120Pro
XM_011531192.1:c.356T>C	XP_011529494.1:p.Leu119Pro
XR_938511.1:n.983T>C
XM_006724841.4:c.428T>C	XP_006724904.1:p.Leu143Pro
XM_006724842.4:c.338T>C	XP_006724905.1:p.Leu113Pro
XM_011531191.2:c.359T>C	XP_011529493.1:p.Leu120Pro
XM_017029761.1:c.503T>C	XP_016885250.1:p.Leu168Pro
XM_017029762.1:c.599T>C	XP_016885251.1:p.Leu200Pro
XM_017029763.1:c.422T>C	XP_016885252.1:p.Leu141Pro
XM_017029764.1:c.356T>C	XP_016885253.1:p.Leu119Pro
XM_017029765.2:c.296T>C	XP_016885254.1:p.Leu99Pro
XM_024452431.1:c.476T>C	XP_024308199.1:p.Leu159Pro
NM_000116.5:c.635T>C MANE Select	NP_000107.1:p.Leu212Pro
NM_001303465.2:c.647T>C	NP_001290394.1:p.Leu216Pro
NM_181311.4:c.545T>C	NP_851828.1:p.Leu182Pro
NM_181312.4:c.593T>C	NP_851829.1:p.Leu198Pro
NM_181313.4:c.503T>C	NP_851830.1:p.Leu168Pro
NR_024048.3:n.956T>C