Canonical Allele Identifier: CA519278020

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648402C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420063C>T , CM000685.2:g.154420063C>T	GRCh38
NC_000023.10:g.153648402C>T , CM000685.1:g.153648402C>T	GRCh37
NC_000023.9:g.153301596C>T	NCBI36
NG_009634.1:g.13526C>T
NG_009634.2:g.13529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1425C>T
ENST00000698317.1:n.2041C>T
ENST00000698318.1:n.1824C>T
ENST00000698319.1:n.1187C>T
ENST00000698320.1:n.1075C>T
ENST00000470127.2:n.1088C>T
ENST00000475699.6:c.579C>T	ENSP00000419854.3:p.Leu193=
ENST00000483674.3:n.497C>T
ENST00000601016.6:c.615C>T MANE Select	ENSP00000469981.1:p.Leu205=
ENST00000612012.5:c.573C>T	ENSP00000482070.2:p.Leu191=
ENST00000612460.5:c.525C>T	ENSP00000481037.1:p.Leu175=
ENST00000614595.2:n.1962C>T
ENST00000615658.5:n.1204C>T
ENST00000616020.5:c.627C>T	ENSP00000483636.2:p.Leu209=
ENST00000617701.5:c.*628C>T	ENSP00000481645.1:n.*628C>T
ENST00000652354.1:c.297C>T	ENSP00000498734.1:p.Leu99=
ENST00000652358.1:c.408C>T	ENSP00000498464.1:p.Leu136=
ENST00000652390.1:c.534C>T	ENSP00000498858.1:p.Leu178=
ENST00000652476.1:n.1281C>T
ENST00000652644.1:c.228C>T	ENSP00000498496.1:p.Leu76=
ENST00000652682.1:c.672C>T	ENSP00000498288.1:p.Leu224=
ENST00000652685.1:n.968C>T
ENST00000369776.8:c.408C>T	ENSP00000358791.4:p.Leu136=
ENST00000426231.5:c.612C>T
ENST00000439735.2:c.522C>T	ENSP00000398193.1:p.Leu174=
ENST00000470127.1:n.194C>T
ENST00000475699.5:c.573C>T	ENSP00000419854.2:p.Leu191=
ENST00000494912.5:n.1304C>T
ENST00000498029.1:n.73C>T
ENST00000601016.5:c.615C>T	ENSP00000469981.1:p.Leu205=
ENST00000612012.4:c.579C>T	ENSP00000482070.1:p.Leu193=
ENST00000612460.4:c.525C>T	ENSP00000481037.1:p.Leu175=
ENST00000613002.4:c.483C>T	ENSP00000478154.1:p.Leu161=
ENST00000615658.4:n.1304C>T
ENST00000615986.4:c.*343C>T	ENSP00000480133.1:n.*343C>T
ENST00000620808.4:c.*201C>T	ENSP00000479311.1:n.*201C>T
NM_000116.4:c.615C>T	NP_000107.1:p.Leu205=
NM_001303465.1:c.627C>T	NP_001290394.1:p.Leu209=
NM_181311.3:c.525C>T	NP_851828.1:p.Leu175=
NM_181312.3:c.573C>T	NP_851829.1:p.Leu191=
NM_181313.3:c.483C>T	NP_851830.1:p.Leu161=
NR_024048.2:n.957C>T
XM_006724836.1:c.669C>T	XP_006724899.1:p.Leu223=
XM_006724837.1:c.537C>T	XP_006724900.1:p.Leu179=
XM_006724839.1:c.537C>T	XP_006724902.1:p.Leu179=
XM_006724841.2:c.408C>T	XP_006724904.1:p.Leu136=
XM_006724842.2:c.318C>T	XP_006724905.1:p.Leu106=
XM_011531189.1:c.456C>T	XP_011529491.1:p.Leu152=
XM_011531190.1:c.408C>T	XP_011529492.1:p.Leu136=
XM_011531191.1:c.339C>T	XP_011529493.1:p.Leu113=
XM_011531192.1:c.336C>T	XP_011529494.1:p.Leu112=
XR_938511.1:n.963C>T
XM_006724841.4:c.408C>T	XP_006724904.1:p.Leu136=
XM_006724842.4:c.318C>T	XP_006724905.1:p.Leu106=
XM_011531191.2:c.339C>T	XP_011529493.1:p.Leu113=
XM_017029761.1:c.483C>T	XP_016885250.1:p.Leu161=
XM_017029762.1:c.579C>T	XP_016885251.1:p.Leu193=
XM_017029763.1:c.402C>T	XP_016885252.1:p.Leu134=
XM_017029764.1:c.336C>T	XP_016885253.1:p.Leu112=
XM_017029765.2:c.276C>T	XP_016885254.1:p.Leu92=
XM_024452431.1:c.456C>T	XP_024308199.1:p.Leu152=
NM_000116.5:c.615C>T MANE Select	NP_000107.1:p.Leu205=
NM_001303465.2:c.627C>T	NP_001290394.1:p.Leu209=
NM_181311.4:c.525C>T	NP_851828.1:p.Leu175=
NM_181312.4:c.573C>T	NP_851829.1:p.Leu191=
NM_181313.4:c.483C>T	NP_851830.1:p.Leu161=
NR_024048.3:n.936C>T