Canonical Allele Identifier: CA415182094

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641893C>T (hg19) ; chrX:g.154413556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413556C>T , CM000685.2:g.154413556C>T	GRCh38
NC_000023.10:g.153641893C>T , CM000685.1:g.153641893C>T	GRCh37
NC_000023.9:g.153295087C>T	NCBI36
NG_009634.1:g.7017C>T
NG_012884.2:g.3533G>A
NG_009634.2:g.7022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.893C>T
ENST00000698235.1:n.433C>T
ENST00000698317.1:n.1419C>T
ENST00000698318.1:n.1292C>T
ENST00000470127.2:n.637C>T
ENST00000475699.6:c.413C>T	ENSP00000419854.3:p.Pro138Leu
ENST00000476800.2:n.1545C>T
ENST00000483674.3:n.250C>T
ENST00000601016.6:c.359C>T MANE Select	ENSP00000469981.1:p.Pro120Leu
ENST00000612012.5:c.359C>T	ENSP00000482070.2:p.Pro120Leu
ENST00000612460.5:c.359C>T	ENSP00000481037.1:p.Pro120Leu
ENST00000614595.2:n.1796C>T
ENST00000615658.5:n.672C>T
ENST00000616020.5:c.413C>T	ENSP00000483636.2:p.Pro138Leu
ENST00000617701.5:c.*177C>T	ENSP00000481645.1:n.*177C>T
ENST00000621647.2:n.641C>T
ENST00000652354.1:c.83C>T	ENSP00000498734.1:p.Pro28Leu
ENST00000652358.1:c.152C>T	ENSP00000498464.1:p.Pro51Leu
ENST00000652390.1:c.278C>T	ENSP00000498858.1:p.Pro93Leu
ENST00000652476.1:n.749C>T
ENST00000652644.1:c.5C>T	ENSP00000498496.1:p.Pro2Leu
ENST00000652682.1:c.359C>T	ENSP00000498288.1:p.Pro120Leu
ENST00000652685.1:n.517C>T
ENST00000369776.8:c.284C>T	ENSP00000358791.4:p.Pro95Leu
ENST00000426231.5:c.275C>T
ENST00000439735.2:c.359C>T	ENSP00000398193.1:p.Pro120Leu
ENST00000470127.1:n.28C>T
ENST00000475699.5:c.359C>T	ENSP00000419854.2:p.Pro120Leu
ENST00000476679.5:n.272C>T
ENST00000476800.1:n.466C>T
ENST00000479875.1:n.388C>T
ENST00000483674.2:n.68C>T
ENST00000483780.5:n.133C>T
ENST00000601016.5:c.359C>T	ENSP00000469981.1:p.Pro120Leu
ENST00000612012.4:c.413C>T	ENSP00000482070.1:p.Pro138Leu
ENST00000612460.4:c.359C>T	ENSP00000481037.1:p.Pro120Leu
ENST00000613002.4:c.359C>T	ENSP00000478154.1:p.Pro120Leu
ENST00000613634.4:n.679C>T
ENST00000615658.4:n.772C>T
ENST00000615986.4:c.*177C>T	ENSP00000480133.1:n.*177C>T
ENST00000616020.4:c.413C>T	ENSP00000483636.1:p.Pro138Leu
ENST00000617701.4:c.*189C>T	ENSP00000481645.1:n.*189C>T
ENST00000620808.4:c.*158C>T	ENSP00000479311.1:n.*158C>T
ENST00000621647.1:n.873C>T
NM_000116.4:c.359C>T	NP_000107.1:p.Pro120Leu
NM_001303465.1:c.413C>T	NP_001290394.1:p.Pro138Leu
NM_181311.3:c.359C>T	NP_851828.1:p.Pro120Leu
NM_181312.3:c.359C>T	NP_851829.1:p.Pro120Leu
NM_181313.3:c.359C>T	NP_851830.1:p.Pro120Leu
NR_024048.2:n.791C>T
XM_006724836.1:c.413C>T	XP_006724899.1:p.Pro138Leu
XM_006724837.1:c.413C>T	XP_006724900.1:p.Pro138Leu
XM_006724839.1:c.413C>T	XP_006724902.1:p.Pro138Leu
XM_006724841.2:c.152C>T	XP_006724904.1:p.Pro51Leu
XM_006724842.2:c.152C>T	XP_006724905.1:p.Pro51Leu
XM_011531189.1:c.413C>T	XP_011529491.1:p.Pro138Leu
XM_011531190.1:c.152C>T	XP_011529492.1:p.Pro51Leu
XM_011531191.1:c.83C>T	XP_011529493.1:p.Pro28Leu
XM_011531192.1:c.80C>T	XP_011529494.1:p.Pro27Leu
XR_938511.1:n.716C>T
XM_006724841.4:c.152C>T	XP_006724904.1:p.Pro51Leu
XM_006724842.4:c.152C>T	XP_006724905.1:p.Pro51Leu
XM_011531191.2:c.83C>T	XP_011529493.1:p.Pro28Leu
XM_017029761.1:c.359C>T	XP_016885250.1:p.Pro120Leu
XM_017029762.1:c.413C>T	XP_016885251.1:p.Pro138Leu
XM_017029763.1:c.359C>T	XP_016885252.1:p.Pro120Leu
XM_017029764.1:c.80C>T	XP_016885253.1:p.Pro27Leu
XM_017029765.2:c.152C>T	XP_016885254.1:p.Pro51Leu
XM_024452431.1:c.413C>T	XP_024308199.1:p.Pro138Leu
NM_000116.5:c.359C>T MANE Select	NP_000107.1:p.Pro120Leu
NM_001303465.2:c.413C>T	NP_001290394.1:p.Pro138Leu
NM_181311.4:c.359C>T	NP_851828.1:p.Pro120Leu
NM_181312.4:c.359C>T	NP_851829.1:p.Pro120Leu
NM_181313.4:c.359C>T	NP_851830.1:p.Pro120Leu
NR_024048.3:n.770C>T