Canonical Allele Identifier: CA337285907

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1918613
• ClinVar RCV Id: RCV002602062
• dbSNP Id: rs984997023
• gnomAD v2: X-153641555-C-T
• gnomAD v3: X-154413218-C-T
• gnomAD v4: X-154413218-C-T
• MyVariant Identifiers: chrX:g.153641555C>T (hg19) ; chrX:g.154413218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413218C>T , CM000685.2:g.154413218C>T	GRCh38
NC_000023.10:g.153641555C>T , CM000685.1:g.153641555C>T	GRCh37
NC_000023.9:g.153294749C>T	NCBI36
NG_009634.1:g.6679C>T
NG_012884.2:g.3871G>A
NG_009634.2:g.6684C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.678C>T
ENST00000698235.1:n.237C>T
ENST00000698317.1:n.1204C>T
ENST00000698318.1:n.1065C>T
ENST00000470127.2:n.299C>T
ENST00000475699.6:c.304C>T	ENSP00000419854.3:p.Leu102Phe
ENST00000476800.2:n.1207C>T
ENST00000483674.3:n.141C>T
ENST00000601016.6:c.250C>T MANE Select	ENSP00000469981.1:p.Leu84Phe
ENST00000612012.5:c.250C>T	ENSP00000482070.2:p.Leu84Phe
ENST00000612460.5:c.250C>T	ENSP00000481037.1:p.Leu84Phe
ENST00000614595.2:n.1600C>T
ENST00000615658.5:n.563C>T
ENST00000616020.5:c.304C>T	ENSP00000483636.2:p.Leu102Phe
ENST00000617701.5:c.250C>T	ENSP00000481645.1:p.Leu84Phe
ENST00000621647.2:n.303C>T
ENST00000652354.1:c.-27C>T	ENSP00000498734.1:n.-27C>T
ENST00000652358.1:c.-45C>T	ENSP00000498464.1:n.-45C>T
ENST00000652390.1:c.169C>T	ENSP00000498858.1:p.Leu57Phe
ENST00000652476.1:n.411C>T
ENST00000652682.1:c.250C>T	ENSP00000498288.1:p.Leu84Phe
ENST00000652685.1:n.302C>T
ENST00000369776.8:c.175C>T	ENSP00000358791.4:p.Leu59Phe
ENST00000426231.5:c.66C>T
ENST00000439735.2:c.250C>T	ENSP00000398193.1:p.Leu84Phe
ENST00000475699.5:c.250C>T	ENSP00000419854.2:p.Leu84Phe
ENST00000476679.5:n.163C>T
ENST00000476800.1:n.128C>T
ENST00000479875.1:n.279C>T
ENST00000483780.5:n.24C>T
ENST00000601016.5:c.250C>T	ENSP00000469981.1:p.Leu84Phe
ENST00000612012.4:c.304C>T	ENSP00000482070.1:p.Leu102Phe
ENST00000612460.4:c.250C>T	ENSP00000481037.1:p.Leu84Phe
ENST00000613002.4:c.250C>T	ENSP00000478154.1:p.Leu84Phe
ENST00000613634.4:n.570C>T
ENST00000615658.4:n.576C>T
ENST00000615986.4:c.250C>T	ENSP00000480133.1:p.Leu84Phe
ENST00000616020.4:c.304C>T	ENSP00000483636.1:p.Leu102Phe
ENST00000617701.4:c.250C>T	ENSP00000481645.1:p.Leu84Phe
ENST00000620808.4:c.250C>T	ENSP00000479311.1:p.Leu84Phe
ENST00000621647.1:n.535C>T
NM_000116.4:c.250C>T	NP_000107.1:p.Leu84Phe
NM_001303465.1:c.304C>T	NP_001290394.1:p.Leu102Phe
NM_181311.3:c.250C>T	NP_851828.1:p.Leu84Phe
NM_181312.3:c.250C>T	NP_851829.1:p.Leu84Phe
NM_181313.3:c.250C>T	NP_851830.1:p.Leu84Phe
NR_024048.2:n.576C>T
XM_006724836.1:c.304C>T	XP_006724899.1:p.Leu102Phe
XM_006724837.1:c.304C>T	XP_006724900.1:p.Leu102Phe
XM_006724839.1:c.304C>T	XP_006724902.1:p.Leu102Phe
XM_006724841.2:c.-45C>T	XP_006724904.1:n.-45C>T
XM_006724842.2:c.-45C>T	XP_006724905.1:n.-45C>T
XM_011531189.1:c.304C>T	XP_011529491.1:p.Leu102Phe
XM_011531190.1:c.-45C>T	XP_011529492.1:n.-45C>T
XM_011531191.1:c.-27C>T	XP_011529493.1:n.-27C>T
XM_011531192.1:c.-148C>T	XP_011529494.1:n.-148C>T
XR_938511.1:n.607C>T
XM_006724841.4:c.-45C>T	XP_006724904.1:n.-45C>T
XM_006724842.4:c.-45C>T	XP_006724905.1:n.-45C>T
XM_011531191.2:c.-27C>T	XP_011529493.1:n.-27C>T
XM_017029761.1:c.250C>T	XP_016885250.1:p.Leu84Phe
XM_017029762.1:c.304C>T	XP_016885251.1:p.Leu102Phe
XM_017029763.1:c.250C>T	XP_016885252.1:p.Leu84Phe
XM_017029765.2:c.-45C>T	XP_016885254.1:n.-45C>T
XM_024452431.1:c.304C>T	XP_024308199.1:p.Leu102Phe
NM_000116.5:c.250C>T MANE Select	NP_000107.1:p.Leu84Phe
NM_001303465.2:c.304C>T	NP_001290394.1:p.Leu102Phe
NM_181311.4:c.250C>T	NP_851828.1:p.Leu84Phe
NM_181312.4:c.250C>T	NP_851829.1:p.Leu84Phe
NM_181313.4:c.250C>T	NP_851830.1:p.Leu84Phe
NR_024048.3:n.555C>T