Canonical Allele Identifier: CA415184506

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648439C>T (hg19) ; chrX:g.154420100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420100C>T , CM000685.2:g.154420100C>T	GRCh38
NC_000023.10:g.153648439C>T , CM000685.1:g.153648439C>T	GRCh37
NC_000023.9:g.153301633C>T	NCBI36
NG_009634.1:g.13563C>T
NG_009634.2:g.13566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1456+6C>T
ENST00000698317.1:n.2072+6C>T
ENST00000698318.1:n.1855+6C>T
ENST00000698319.1:n.1218+6C>T
ENST00000698320.1:n.1106+6C>T
ENST00000470127.2:n.1119+6C>T
ENST00000475699.6:c.610+6C>T	ENSP00000419854.3:n.610+6C>T
ENST00000483674.3:n.528+6C>T
ENST00000601016.6:c.646+6C>T MANE Select	ENSP00000469981.1:n.646+6C>T
ENST00000612012.5:c.604+6C>T	ENSP00000482070.2:n.604+6C>T
ENST00000612460.5:c.556+6C>T	ENSP00000481037.1:n.556+6C>T
ENST00000614595.2:n.1993+6C>T
ENST00000615658.5:n.1235+6C>T
ENST00000616020.5:c.658+6C>T	ENSP00000483636.2:n.658+6C>T
ENST00000617701.5:c.*659+6C>T	ENSP00000481645.1:n.*659+6C>T
ENST00000652354.1:c.328+6C>T	ENSP00000498734.1:n.328+6C>T
ENST00000652358.1:c.439+6C>T	ENSP00000498464.1:n.439+6C>T
ENST00000652390.1:c.565+6C>T	ENSP00000498858.1:n.565+6C>T
ENST00000652476.1:n.1312+6C>T
ENST00000652644.1:c.259+6C>T	ENSP00000498496.1:n.259+6C>T
ENST00000652682.1:c.703+6C>T	ENSP00000498288.1:n.703+6C>T
ENST00000652685.1:n.999+6C>T
ENST00000369776.8:c.445C>T	ENSP00000358791.4:p.Pro149Ser
ENST00000426231.5:c.643+6C>T
ENST00000470127.1:n.231C>T
ENST00000475699.5:c.604+6C>T	ENSP00000419854.2:n.604+6C>T
ENST00000494912.5:n.1335+6C>T
ENST00000498029.1:n.104+6C>T
ENST00000601016.5:c.646+6C>T	ENSP00000469981.1:n.646+6C>T
ENST00000612460.4:c.556+6C>T	ENSP00000481037.1:n.556+6C>T
ENST00000613002.4:c.514+6C>T	ENSP00000478154.1:n.514+6C>T
ENST00000615986.4:c.*374+6C>T	ENSP00000480133.1:n.*374+6C>T
NM_000116.4:c.646+6C>T	NP_000107.1:n.646+6C>T
NM_001303465.1:c.658+6C>T	NP_001290394.1:n.658+6C>T
NM_181311.3:c.556+6C>T	NP_851828.1:n.556+6C>T
NM_181312.3:c.604+6C>T	NP_851829.1:n.604+6C>T
NM_181313.3:c.514+6C>T	NP_851830.1:n.514+6C>T
NR_024048.2:n.988+6C>T
XM_006724836.1:c.700+6C>T	XP_006724899.1:n.700+6C>T
XM_006724837.1:c.574C>T	XP_006724900.1:p.Pro192Ser
XM_006724839.1:c.568+6C>T	XP_006724902.1:n.568+6C>T
XM_006724841.2:c.439+6C>T	XP_006724904.1:n.439+6C>T
XM_006724842.2:c.349+6C>T	XP_006724905.1:n.349+6C>T
XM_011531189.1:c.487+6C>T	XP_011529491.1:n.487+6C>T
XM_011531190.1:c.439+6C>T	XP_011529492.1:n.439+6C>T
XM_011531191.1:c.370+6C>T	XP_011529493.1:n.370+6C>T
XM_011531192.1:c.367+6C>T	XP_011529494.1:n.367+6C>T
XR_938511.1:n.994+6C>T
XM_006724841.4:c.439+6C>T	XP_006724904.1:n.439+6C>T
XM_006724842.4:c.349+6C>T	XP_006724905.1:n.349+6C>T
XM_011531191.2:c.370+6C>T	XP_011529493.1:n.370+6C>T
XM_017029761.1:c.520C>T	XP_016885250.1:p.Pro174Ser
XM_017029762.1:c.610+6C>T	XP_016885251.1:n.610+6C>T
XM_017029763.1:c.433+6C>T	XP_016885252.1:n.433+6C>T
XM_017029764.1:c.367+6C>T	XP_016885253.1:n.367+6C>T
XM_017029765.2:c.307+6C>T	XP_016885254.1:n.307+6C>T
XM_024452431.1:c.493C>T	XP_024308199.1:p.Pro165Ser
NM_000116.5:c.646+6C>T MANE Select	NP_000107.1:n.646+6C>T
NM_001303465.2:c.658+6C>T	NP_001290394.1:n.658+6C>T
NM_181311.4:c.556+6C>T	NP_851828.1:n.556+6C>T
NM_181312.4:c.604+6C>T	NP_851829.1:n.604+6C>T
NM_181313.4:c.514+6C>T	NP_851830.1:n.514+6C>T
NR_024048.3:n.967+6C>T