Canonical Allele Identifier: CA415184333

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648415C>A (hg19) ; chrX:g.154420076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420076C>A , CM000685.2:g.154420076C>A	GRCh38
NC_000023.10:g.153648415C>A , CM000685.1:g.153648415C>A	GRCh37
NC_000023.9:g.153301609C>A	NCBI36
NG_009634.1:g.13539C>A
NG_009634.2:g.13542C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1438C>A
ENST00000698317.1:n.2054C>A
ENST00000698318.1:n.1837C>A
ENST00000698319.1:n.1200C>A
ENST00000698320.1:n.1088C>A
ENST00000470127.2:n.1101C>A
ENST00000475699.6:c.592C>A	ENSP00000419854.3:p.Leu198Met
ENST00000483674.3:n.510C>A
ENST00000601016.6:c.628C>A MANE Select	ENSP00000469981.1:p.Leu210Met
ENST00000612012.5:c.586C>A	ENSP00000482070.2:p.Leu196Met
ENST00000612460.5:c.538C>A	ENSP00000481037.1:p.Leu180Met
ENST00000614595.2:n.1975C>A
ENST00000615658.5:n.1217C>A
ENST00000616020.5:c.640C>A	ENSP00000483636.2:p.Leu214Met
ENST00000617701.5:c.*641C>A	ENSP00000481645.1:n.*641C>A
ENST00000652354.1:c.310C>A	ENSP00000498734.1:p.Leu104Met
ENST00000652358.1:c.421C>A	ENSP00000498464.1:p.Leu141Met
ENST00000652390.1:c.547C>A	ENSP00000498858.1:p.Leu183Met
ENST00000652476.1:n.1294C>A
ENST00000652644.1:c.241C>A	ENSP00000498496.1:p.Leu81Met
ENST00000652682.1:c.685C>A	ENSP00000498288.1:p.Leu229Met
ENST00000652685.1:n.981C>A
ENST00000369776.8:c.421C>A	ENSP00000358791.4:p.Leu141Met
ENST00000426231.5:c.625C>A
ENST00000439735.2:c.535C>A	ENSP00000398193.1:p.Leu179Met
ENST00000470127.1:n.207C>A
ENST00000475699.5:c.586C>A	ENSP00000419854.2:p.Leu196Met
ENST00000494912.5:n.1317C>A
ENST00000498029.1:n.86C>A
ENST00000601016.5:c.628C>A	ENSP00000469981.1:p.Leu210Met
ENST00000612460.4:c.538C>A	ENSP00000481037.1:p.Leu180Met
ENST00000613002.4:c.496C>A	ENSP00000478154.1:p.Leu166Met
ENST00000615658.4:n.1317C>A
ENST00000615986.4:c.*356C>A	ENSP00000480133.1:n.*356C>A
ENST00000620808.4:c.*214C>A	ENSP00000479311.1:n.*214C>A
NM_000116.4:c.628C>A	NP_000107.1:p.Leu210Met
NM_001303465.1:c.640C>A	NP_001290394.1:p.Leu214Met
NM_181311.3:c.538C>A	NP_851828.1:p.Leu180Met
NM_181312.3:c.586C>A	NP_851829.1:p.Leu196Met
NM_181313.3:c.496C>A	NP_851830.1:p.Leu166Met
NR_024048.2:n.970C>A
XM_006724836.1:c.682C>A	XP_006724899.1:p.Leu228Met
XM_006724837.1:c.550C>A	XP_006724900.1:p.Leu184Met
XM_006724839.1:c.550C>A	XP_006724902.1:p.Leu184Met
XM_006724841.2:c.421C>A	XP_006724904.1:p.Leu141Met
XM_006724842.2:c.331C>A	XP_006724905.1:p.Leu111Met
XM_011531189.1:c.469C>A	XP_011529491.1:p.Leu157Met
XM_011531190.1:c.421C>A	XP_011529492.1:p.Leu141Met
XM_011531191.1:c.352C>A	XP_011529493.1:p.Leu118Met
XM_011531192.1:c.349C>A	XP_011529494.1:p.Leu117Met
XR_938511.1:n.976C>A
XM_006724841.4:c.421C>A	XP_006724904.1:p.Leu141Met
XM_006724842.4:c.331C>A	XP_006724905.1:p.Leu111Met
XM_011531191.2:c.352C>A	XP_011529493.1:p.Leu118Met
XM_017029761.1:c.496C>A	XP_016885250.1:p.Leu166Met
XM_017029762.1:c.592C>A	XP_016885251.1:p.Leu198Met
XM_017029763.1:c.415C>A	XP_016885252.1:p.Leu139Met
XM_017029764.1:c.349C>A	XP_016885253.1:p.Leu117Met
XM_017029765.2:c.289C>A	XP_016885254.1:p.Leu97Met
XM_024452431.1:c.469C>A	XP_024308199.1:p.Leu157Met
NM_000116.5:c.628C>A MANE Select	NP_000107.1:p.Leu210Met
NM_001303465.2:c.640C>A	NP_001290394.1:p.Leu214Met
NM_181311.4:c.538C>A	NP_851828.1:p.Leu180Met
NM_181312.4:c.586C>A	NP_851829.1:p.Leu196Met
NM_181313.4:c.496C>A	NP_851830.1:p.Leu166Met
NR_024048.3:n.949C>A