Canonical Allele Identifier: CA415184408

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648426G>C (hg19) ; chrX:g.154420087G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420087G>C , CM000685.2:g.154420087G>C	GRCh38
NC_000023.10:g.153648426G>C , CM000685.1:g.153648426G>C	GRCh37
NC_000023.9:g.153301620G>C	NCBI36
NG_009634.1:g.13550G>C
NG_009634.2:g.13553G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1449G>C
ENST00000698317.1:n.2065G>C
ENST00000698318.1:n.1848G>C
ENST00000698319.1:n.1211G>C
ENST00000698320.1:n.1099G>C
ENST00000470127.2:n.1112G>C
ENST00000475699.6:c.603G>C	ENSP00000419854.3:p.Trp201Cys
ENST00000483674.3:n.521G>C
ENST00000601016.6:c.639G>C MANE Select	ENSP00000469981.1:p.Trp213Cys
ENST00000612012.5:c.597G>C	ENSP00000482070.2:p.Trp199Cys
ENST00000612460.5:c.549G>C	ENSP00000481037.1:p.Trp183Cys
ENST00000614595.2:n.1986G>C
ENST00000615658.5:n.1228G>C
ENST00000616020.5:c.651G>C	ENSP00000483636.2:p.Trp217Cys
ENST00000617701.5:c.*652G>C	ENSP00000481645.1:n.*652G>C
ENST00000652354.1:c.321G>C	ENSP00000498734.1:p.Trp107Cys
ENST00000652358.1:c.432G>C	ENSP00000498464.1:p.Trp144Cys
ENST00000652390.1:c.558G>C	ENSP00000498858.1:p.Trp186Cys
ENST00000652476.1:n.1305G>C
ENST00000652644.1:c.252G>C	ENSP00000498496.1:p.Trp84Cys
ENST00000652682.1:c.696G>C	ENSP00000498288.1:p.Trp232Cys
ENST00000652685.1:n.992G>C
ENST00000369776.8:c.432G>C	ENSP00000358791.4:p.Trp144Cys
ENST00000426231.5:c.636G>C
ENST00000439735.2:c.546G>C	ENSP00000398193.1:p.Trp182Cys
ENST00000470127.1:n.218G>C
ENST00000475699.5:c.597G>C	ENSP00000419854.2:p.Trp199Cys
ENST00000494912.5:n.1328G>C
ENST00000498029.1:n.97G>C
ENST00000601016.5:c.639G>C	ENSP00000469981.1:p.Trp213Cys
ENST00000612460.4:c.549G>C	ENSP00000481037.1:p.Trp183Cys
ENST00000613002.4:c.507G>C	ENSP00000478154.1:p.Trp169Cys
ENST00000615986.4:c.*367G>C	ENSP00000480133.1:n.*367G>C
NM_000116.4:c.639G>C	NP_000107.1:p.Trp213Cys
NM_001303465.1:c.651G>C	NP_001290394.1:p.Trp217Cys
NM_181311.3:c.549G>C	NP_851828.1:p.Trp183Cys
NM_181312.3:c.597G>C	NP_851829.1:p.Trp199Cys
NM_181313.3:c.507G>C	NP_851830.1:p.Trp169Cys
NR_024048.2:n.981G>C
XM_006724836.1:c.693G>C	XP_006724899.1:p.Trp231Cys
XM_006724837.1:c.561G>C	XP_006724900.1:p.Trp187Cys
XM_006724839.1:c.561G>C	XP_006724902.1:p.Trp187Cys
XM_006724841.2:c.432G>C	XP_006724904.1:p.Trp144Cys
XM_006724842.2:c.342G>C	XP_006724905.1:p.Trp114Cys
XM_011531189.1:c.480G>C	XP_011529491.1:p.Trp160Cys
XM_011531190.1:c.432G>C	XP_011529492.1:p.Trp144Cys
XM_011531191.1:c.363G>C	XP_011529493.1:p.Trp121Cys
XM_011531192.1:c.360G>C	XP_011529494.1:p.Trp120Cys
XR_938511.1:n.987G>C
XM_006724841.4:c.432G>C	XP_006724904.1:p.Trp144Cys
XM_006724842.4:c.342G>C	XP_006724905.1:p.Trp114Cys
XM_011531191.2:c.363G>C	XP_011529493.1:p.Trp121Cys
XM_017029761.1:c.507G>C	XP_016885250.1:p.Trp169Cys
XM_017029762.1:c.603G>C	XP_016885251.1:p.Trp201Cys
XM_017029763.1:c.426G>C	XP_016885252.1:p.Trp142Cys
XM_017029764.1:c.360G>C	XP_016885253.1:p.Trp120Cys
XM_017029765.2:c.300G>C	XP_016885254.1:p.Trp100Cys
XM_024452431.1:c.480G>C	XP_024308199.1:p.Trp160Cys
NM_000116.5:c.639G>C MANE Select	NP_000107.1:p.Trp213Cys
NM_001303465.2:c.651G>C	NP_001290394.1:p.Trp217Cys
NM_181311.4:c.549G>C	NP_851828.1:p.Trp183Cys
NM_181312.4:c.597G>C	NP_851829.1:p.Trp199Cys
NM_181313.4:c.507G>C	NP_851830.1:p.Trp169Cys
NR_024048.3:n.960G>C