Canonical Allele Identifier: CA415185530

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1051351
• ClinVar RCV Id: RCV001359374
• dbSNP Id: rs2068606445
• gnomAD v4: X-154420731-C-T
• COSMIC: COSM3694449
• MyVariant Identifiers: chrX:g.153649070C>T (hg19) ; chrX:g.154420731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420731C>T , CM000685.2:g.154420731C>T	GRCh38
NC_000023.10:g.153649070C>T , CM000685.1:g.153649070C>T	GRCh37
NC_000023.9:g.153302264C>T	NCBI36
NG_009634.1:g.14194C>T
NG_009634.2:g.14197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1583C>T
ENST00000698317.1:n.2199C>T
ENST00000698318.1:n.1982C>T
ENST00000698319.1:n.1345C>T
ENST00000698320.1:n.1233C>T
ENST00000470127.2:n.1246C>T
ENST00000475699.6:c.737C>T	ENSP00000419854.3:p.Ser246Leu
ENST00000483674.3:n.655C>T
ENST00000601016.6:c.773C>T MANE Select	ENSP00000469981.1:p.Ser258Leu
ENST00000612012.5:c.731C>T	ENSP00000482070.2:p.Ser244Leu
ENST00000612460.5:c.683C>T	ENSP00000481037.1:p.Ser228Leu
ENST00000614595.2:n.2120C>T
ENST00000615658.5:n.1362C>T
ENST00000616020.5:c.785C>T	ENSP00000483636.2:p.Ser262Leu
ENST00000617701.5:c.*786C>T	ENSP00000481645.1:n.*786C>T
ENST00000651139.1:c.-11C>T	ENSP00000498957.1:n.-11C>T
ENST00000652354.1:c.455C>T	ENSP00000498734.1:p.Ser152Leu
ENST00000652358.1:c.566C>T	ENSP00000498464.1:p.Ser189Leu
ENST00000652390.1:c.692C>T	ENSP00000498858.1:p.Ser231Leu
ENST00000652476.1:n.1439C>T
ENST00000652644.1:c.386C>T	ENSP00000498496.1:p.Ser129Leu
ENST00000652682.1:c.830C>T	ENSP00000498288.1:p.Ser277Leu
ENST00000652685.1:n.1126C>T
ENST00000369776.8:c.683C>T	ENSP00000358791.4:p.Ser228Leu
ENST00000426231.5:c.770C>T
ENST00000475699.5:c.731C>T	ENSP00000419854.2:p.Ser244Leu
ENST00000494912.5:n.1462C>T
ENST00000498029.1:n.231C>T
ENST00000601016.5:c.773C>T	ENSP00000469981.1:p.Ser258Leu
ENST00000612460.4:c.683C>T	ENSP00000481037.1:p.Ser228Leu
ENST00000613002.4:c.641C>T	ENSP00000478154.1:p.Ser214Leu
ENST00000615986.4:c.*501C>T	ENSP00000480133.1:n.*501C>T
NM_000116.4:c.773C>T	NP_000107.1:p.Ser258Leu
NM_001303465.1:c.785C>T	NP_001290394.1:p.Ser262Leu
NM_181311.3:c.683C>T	NP_851828.1:p.Ser228Leu
NM_181312.3:c.731C>T	NP_851829.1:p.Ser244Leu
NM_181313.3:c.641C>T	NP_851830.1:p.Ser214Leu
NR_024048.2:n.1115C>T
XM_006724836.1:c.827C>T	XP_006724899.1:p.Ser276Leu
XM_006724837.1:c.812C>T	XP_006724900.1:p.Ser271Leu
XM_006724839.1:c.695C>T	XP_006724902.1:p.Ser232Leu
XM_006724841.2:c.566C>T	XP_006724904.1:p.Ser189Leu
XM_006724842.2:c.476C>T	XP_006724905.1:p.Ser159Leu
XM_011531189.1:c.614C>T	XP_011529491.1:p.Ser205Leu
XM_011531190.1:c.566C>T	XP_011529492.1:p.Ser189Leu
XM_011531191.1:c.497C>T	XP_011529493.1:p.Ser166Leu
XM_011531192.1:c.494C>T	XP_011529494.1:p.Ser165Leu
XR_938511.1:n.1121C>T
XM_006724841.4:c.566C>T	XP_006724904.1:p.Ser189Leu
XM_006724842.4:c.476C>T	XP_006724905.1:p.Ser159Leu
XM_011531191.2:c.497C>T	XP_011529493.1:p.Ser166Leu
XM_017029761.1:c.758C>T	XP_016885250.1:p.Ser253Leu
XM_017029762.1:c.737C>T	XP_016885251.1:p.Ser246Leu
XM_017029763.1:c.560C>T	XP_016885252.1:p.Ser187Leu
XM_017029764.1:c.494C>T	XP_016885253.1:p.Ser165Leu
XM_017029765.2:c.434C>T	XP_016885254.1:p.Ser145Leu
XM_024452431.1:c.731C>T	XP_024308199.1:p.Ser244Leu
NM_000116.5:c.773C>T MANE Select	NP_000107.1:p.Ser258Leu
NM_001303465.2:c.785C>T	NP_001290394.1:p.Ser262Leu
NM_181311.4:c.683C>T	NP_851828.1:p.Ser228Leu
NM_181312.4:c.731C>T	NP_851829.1:p.Ser244Leu
NM_181313.4:c.641C>T	NP_851830.1:p.Ser214Leu
NR_024048.3:n.1094C>T