Canonical Allele Identifier: CA415183993

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648082T>C (hg19) ; chrX:g.154419743T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419743T>C , CM000685.2:g.154419743T>C	GRCh38
NC_000023.10:g.153648082T>C , CM000685.1:g.153648082T>C	GRCh37
NC_000023.9:g.153301276T>C	NCBI36
NG_009634.1:g.13206T>C
NG_009634.2:g.13209T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1105T>C
ENST00000698317.1:n.1721T>C
ENST00000698318.1:n.1504T>C
ENST00000698319.1:n.867T>C
ENST00000698320.1:n.755T>C
ENST00000470127.2:n.768T>C
ENST00000475699.6:c.544T>C	ENSP00000419854.3:p.Trp182Arg
ENST00000483674.3:n.462T>C
ENST00000601016.6:c.580T>C MANE Select	ENSP00000469981.1:p.Trp194Arg
ENST00000612012.5:c.541+120T>C	ENSP00000482070.2:n.541+120T>C
ENST00000612460.5:c.490T>C	ENSP00000481037.1:p.Trp164Arg
ENST00000614595.2:n.1927T>C
ENST00000615658.5:n.884T>C
ENST00000616020.5:c.595+120T>C	ENSP00000483636.2:n.595+120T>C
ENST00000617701.5:c.*308T>C	ENSP00000481645.1:n.*308T>C
ENST00000652354.1:c.265+120T>C	ENSP00000498734.1:n.265+120T>C
ENST00000652358.1:c.373T>C	ENSP00000498464.1:p.Trp125Arg
ENST00000652390.1:c.499T>C	ENSP00000498858.1:p.Trp167Arg
ENST00000652476.1:n.961T>C
ENST00000652644.1:c.193T>C	ENSP00000498496.1:p.Trp65Arg
ENST00000652682.1:c.637T>C	ENSP00000498288.1:p.Trp213Arg
ENST00000652685.1:n.648T>C
ENST00000369776.8:c.376+120T>C	ENSP00000358791.4:n.376+120T>C
ENST00000426231.5:c.577T>C
ENST00000439735.2:c.487T>C	ENSP00000398193.1:p.Trp163Arg
ENST00000470127.1:n.159T>C
ENST00000475699.5:c.541+120T>C	ENSP00000419854.2:n.541+120T>C
ENST00000476679.5:n.574T>C
ENST00000483780.5:n.345T>C
ENST00000494912.5:n.1269T>C
ENST00000601016.5:c.580T>C	ENSP00000469981.1:p.Trp194Arg
ENST00000612012.4:c.544T>C	ENSP00000482070.1:p.Trp182Arg
ENST00000612460.4:c.490T>C	ENSP00000481037.1:p.Trp164Arg
ENST00000613002.4:c.451+120T>C	ENSP00000478154.1:n.451+120T>C
ENST00000613634.4:n.810T>C
ENST00000615658.4:n.984T>C
ENST00000615986.4:c.*308T>C	ENSP00000480133.1:n.*308T>C
ENST00000620808.4:c.*170-289T>C	ENSP00000479311.1:n.*170-289T>C
NM_000116.4:c.580T>C	NP_000107.1:p.Trp194Arg
NM_001303465.1:c.595+120T>C	NP_001290394.1:n.595+120T>C
NM_181311.3:c.490T>C	NP_851828.1:p.Trp164Arg
NM_181312.3:c.541+120T>C	NP_851829.1:n.541+120T>C
NM_181313.3:c.451+120T>C	NP_851830.1:n.451+120T>C
NR_024048.2:n.922T>C
XM_006724836.1:c.634T>C	XP_006724899.1:p.Trp212Arg
XM_006724837.1:c.505+120T>C	XP_006724900.1:n.505+120T>C
XM_006724839.1:c.505+120T>C	XP_006724902.1:n.505+120T>C
XM_006724841.2:c.373T>C	XP_006724904.1:p.Trp125Arg
XM_006724842.2:c.283T>C	XP_006724905.1:p.Trp95Arg
XM_011531189.1:c.425-289T>C	XP_011529491.1:n.425-289T>C
XM_011531190.1:c.373T>C	XP_011529492.1:p.Trp125Arg
XM_011531191.1:c.304T>C	XP_011529493.1:p.Trp102Arg
XM_011531192.1:c.301T>C	XP_011529494.1:p.Trp101Arg
XR_938511.1:n.928T>C
XM_006724841.4:c.373T>C	XP_006724904.1:p.Trp125Arg
XM_006724842.4:c.283T>C	XP_006724905.1:p.Trp95Arg
XM_011531191.2:c.304T>C	XP_011529493.1:p.Trp102Arg
XM_017029761.1:c.451+120T>C	XP_016885250.1:n.451+120T>C
XM_017029762.1:c.544T>C	XP_016885251.1:p.Trp182Arg
XM_017029763.1:c.371-289T>C	XP_016885252.1:n.371-289T>C
XM_017029764.1:c.301T>C	XP_016885253.1:p.Trp101Arg
XM_017029765.2:c.244+120T>C	XP_016885254.1:n.244+120T>C
XM_024452431.1:c.425-289T>C	XP_024308199.1:n.425-289T>C
NM_000116.5:c.580T>C MANE Select	NP_000107.1:p.Trp194Arg
NM_001303465.2:c.595+120T>C	NP_001290394.1:n.595+120T>C
NM_181311.4:c.490T>C	NP_851828.1:p.Trp164Arg
NM_181312.4:c.541+120T>C	NP_851829.1:n.541+120T>C
NM_181313.4:c.451+120T>C	NP_851830.1:n.451+120T>C
NR_024048.3:n.901T>C