Canonical Allele Identifier: CA415184610

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648464C>T (hg19) ; chrX:g.154420125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420125C>T , CM000685.2:g.154420125C>T	GRCh38
NC_000023.10:g.153648464C>T , CM000685.1:g.153648464C>T	GRCh37
NC_000023.9:g.153301658C>T	NCBI36
NG_009634.1:g.13588C>T
NG_009634.2:g.13591C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1456+31C>T
ENST00000698317.1:n.2072+31C>T
ENST00000698318.1:n.1855+31C>T
ENST00000698319.1:n.1218+31C>T
ENST00000698320.1:n.1106+31C>T
ENST00000470127.2:n.1119+31C>T
ENST00000475699.6:c.610+31C>T	ENSP00000419854.3:n.610+31C>T
ENST00000483674.3:n.528+31C>T
ENST00000601016.6:c.646+31C>T MANE Select	ENSP00000469981.1:n.646+31C>T
ENST00000612012.5:c.604+31C>T	ENSP00000482070.2:n.604+31C>T
ENST00000612460.5:c.556+31C>T	ENSP00000481037.1:n.556+31C>T
ENST00000614595.2:n.1993+31C>T
ENST00000615658.5:n.1235+31C>T
ENST00000616020.5:c.658+31C>T	ENSP00000483636.2:n.658+31C>T
ENST00000617701.5:c.*659+31C>T	ENSP00000481645.1:n.*659+31C>T
ENST00000652354.1:c.328+31C>T	ENSP00000498734.1:n.328+31C>T
ENST00000652358.1:c.439+31C>T	ENSP00000498464.1:n.439+31C>T
ENST00000652390.1:c.565+31C>T	ENSP00000498858.1:n.565+31C>T
ENST00000652476.1:n.1312+31C>T
ENST00000652644.1:c.259+31C>T	ENSP00000498496.1:n.259+31C>T
ENST00000652682.1:c.703+31C>T	ENSP00000498288.1:n.703+31C>T
ENST00000652685.1:n.999+31C>T
ENST00000369776.8:c.470C>T	ENSP00000358791.4:p.Ala157Val
ENST00000426231.5:c.643+31C>T
ENST00000470127.1:n.256C>T
ENST00000475699.5:c.604+31C>T	ENSP00000419854.2:n.604+31C>T
ENST00000494912.5:n.1335+31C>T
ENST00000498029.1:n.104+31C>T
ENST00000601016.5:c.646+31C>T	ENSP00000469981.1:n.646+31C>T
ENST00000612460.4:c.556+31C>T	ENSP00000481037.1:n.556+31C>T
ENST00000613002.4:c.514+31C>T	ENSP00000478154.1:n.514+31C>T
ENST00000615986.4:c.*374+31C>T	ENSP00000480133.1:n.*374+31C>T
NM_000116.4:c.646+31C>T	NP_000107.1:n.646+31C>T
NM_001303465.1:c.658+31C>T	NP_001290394.1:n.658+31C>T
NM_181311.3:c.556+31C>T	NP_851828.1:n.556+31C>T
NM_181312.3:c.604+31C>T	NP_851829.1:n.604+31C>T
NM_181313.3:c.514+31C>T	NP_851830.1:n.514+31C>T
NR_024048.2:n.988+31C>T
XM_006724836.1:c.700+31C>T	XP_006724899.1:n.700+31C>T
XM_006724837.1:c.599C>T	XP_006724900.1:p.Ala200Val
XM_006724839.1:c.568+31C>T	XP_006724902.1:n.568+31C>T
XM_006724841.2:c.439+31C>T	XP_006724904.1:n.439+31C>T
XM_006724842.2:c.349+31C>T	XP_006724905.1:n.349+31C>T
XM_011531189.1:c.487+31C>T	XP_011529491.1:n.487+31C>T
XM_011531190.1:c.439+31C>T	XP_011529492.1:n.439+31C>T
XM_011531191.1:c.370+31C>T	XP_011529493.1:n.370+31C>T
XM_011531192.1:c.367+31C>T	XP_011529494.1:n.367+31C>T
XR_938511.1:n.994+31C>T
XM_006724841.4:c.439+31C>T	XP_006724904.1:n.439+31C>T
XM_006724842.4:c.349+31C>T	XP_006724905.1:n.349+31C>T
XM_011531191.2:c.370+31C>T	XP_011529493.1:n.370+31C>T
XM_017029761.1:c.545C>T	XP_016885250.1:p.Ala182Val
XM_017029762.1:c.610+31C>T	XP_016885251.1:n.610+31C>T
XM_017029763.1:c.433+31C>T	XP_016885252.1:n.433+31C>T
XM_017029764.1:c.367+31C>T	XP_016885253.1:n.367+31C>T
XM_017029765.2:c.307+31C>T	XP_016885254.1:n.307+31C>T
XM_024452431.1:c.518C>T	XP_024308199.1:p.Ala173Val
NM_000116.5:c.646+31C>T MANE Select	NP_000107.1:n.646+31C>T
NM_001303465.2:c.658+31C>T	NP_001290394.1:n.658+31C>T
NM_181311.4:c.556+31C>T	NP_851828.1:n.556+31C>T
NM_181312.4:c.604+31C>T	NP_851829.1:n.604+31C>T
NM_181313.4:c.514+31C>T	NP_851830.1:n.514+31C>T
NR_024048.3:n.967+31C>T