Canonical Allele Identifier: CA415183982

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2756444
• ClinVar RCV Id: RCV003511868
• MyVariant Identifiers: chrX:g.153648080A>T (hg19) ; chrX:g.154419741A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419741A>T , CM000685.2:g.154419741A>T	GRCh38
NC_000023.10:g.153648080A>T , CM000685.1:g.153648080A>T	GRCh37
NC_000023.9:g.153301274A>T	NCBI36
NG_009634.1:g.13204A>T
NG_009634.2:g.13207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1103A>T
ENST00000698317.1:n.1719A>T
ENST00000698318.1:n.1502A>T
ENST00000698319.1:n.865A>T
ENST00000698320.1:n.753A>T
ENST00000470127.2:n.766A>T
ENST00000475699.6:c.542A>T	ENSP00000419854.3:p.Lys181Met
ENST00000483674.3:n.460A>T
ENST00000601016.6:c.578A>T MANE Select	ENSP00000469981.1:p.Lys193Met
ENST00000612012.5:c.541+118A>T	ENSP00000482070.2:n.541+118A>T
ENST00000612460.5:c.488A>T	ENSP00000481037.1:p.Lys163Met
ENST00000614595.2:n.1925A>T
ENST00000615658.5:n.882A>T
ENST00000616020.5:c.595+118A>T	ENSP00000483636.2:n.595+118A>T
ENST00000617701.5:c.*306A>T	ENSP00000481645.1:n.*306A>T
ENST00000652354.1:c.265+118A>T	ENSP00000498734.1:n.265+118A>T
ENST00000652358.1:c.371A>T	ENSP00000498464.1:p.Lys124Met
ENST00000652390.1:c.497A>T	ENSP00000498858.1:p.Lys166Met
ENST00000652476.1:n.959A>T
ENST00000652644.1:c.191A>T	ENSP00000498496.1:p.Lys64Met
ENST00000652682.1:c.635A>T	ENSP00000498288.1:p.Lys212Met
ENST00000652685.1:n.646A>T
ENST00000369776.8:c.376+118A>T	ENSP00000358791.4:n.376+118A>T
ENST00000426231.5:c.575A>T
ENST00000439735.2:c.485A>T	ENSP00000398193.1:p.Lys162Met
ENST00000470127.1:n.157A>T
ENST00000475699.5:c.541+118A>T	ENSP00000419854.2:n.541+118A>T
ENST00000476679.5:n.572A>T
ENST00000483780.5:n.343A>T
ENST00000494912.5:n.1267A>T
ENST00000601016.5:c.578A>T	ENSP00000469981.1:p.Lys193Met
ENST00000612012.4:c.542A>T	ENSP00000482070.1:p.Lys181Met
ENST00000612460.4:c.488A>T	ENSP00000481037.1:p.Lys163Met
ENST00000613002.4:c.451+118A>T	ENSP00000478154.1:n.451+118A>T
ENST00000613634.4:n.808A>T
ENST00000615658.4:n.982A>T
ENST00000615986.4:c.*306A>T	ENSP00000480133.1:n.*306A>T
ENST00000620808.4:c.*170-291A>T	ENSP00000479311.1:n.*170-291A>T
NM_000116.4:c.578A>T	NP_000107.1:p.Lys193Met
NM_001303465.1:c.595+118A>T	NP_001290394.1:n.595+118A>T
NM_181311.3:c.488A>T	NP_851828.1:p.Lys163Met
NM_181312.3:c.541+118A>T	NP_851829.1:n.541+118A>T
NM_181313.3:c.451+118A>T	NP_851830.1:n.451+118A>T
NR_024048.2:n.920A>T
XM_006724836.1:c.632A>T	XP_006724899.1:p.Lys211Met
XM_006724837.1:c.505+118A>T	XP_006724900.1:n.505+118A>T
XM_006724839.1:c.505+118A>T	XP_006724902.1:n.505+118A>T
XM_006724841.2:c.371A>T	XP_006724904.1:p.Lys124Met
XM_006724842.2:c.281A>T	XP_006724905.1:p.Lys94Met
XM_011531189.1:c.425-291A>T	XP_011529491.1:n.425-291A>T
XM_011531190.1:c.371A>T	XP_011529492.1:p.Lys124Met
XM_011531191.1:c.302A>T	XP_011529493.1:p.Lys101Met
XM_011531192.1:c.299A>T	XP_011529494.1:p.Lys100Met
XR_938511.1:n.926A>T
XM_006724841.4:c.371A>T	XP_006724904.1:p.Lys124Met
XM_006724842.4:c.281A>T	XP_006724905.1:p.Lys94Met
XM_011531191.2:c.302A>T	XP_011529493.1:p.Lys101Met
XM_017029761.1:c.451+118A>T	XP_016885250.1:n.451+118A>T
XM_017029762.1:c.542A>T	XP_016885251.1:p.Lys181Met
XM_017029763.1:c.371-291A>T	XP_016885252.1:n.371-291A>T
XM_017029764.1:c.299A>T	XP_016885253.1:p.Lys100Met
XM_017029765.2:c.244+118A>T	XP_016885254.1:n.244+118A>T
XM_024452431.1:c.425-291A>T	XP_024308199.1:n.425-291A>T
NM_000116.5:c.578A>T MANE Select	NP_000107.1:p.Lys193Met
NM_001303465.2:c.595+118A>T	NP_001290394.1:n.595+118A>T
NM_181311.4:c.488A>T	NP_851828.1:p.Lys163Met
NM_181312.4:c.541+118A>T	NP_851829.1:n.541+118A>T
NM_181313.4:c.451+118A>T	NP_851830.1:n.451+118A>T
NR_024048.3:n.899A>T