Canonical Allele Identifier: CA519277677

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641897G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413560G>C , CM000685.2:g.154413560G>C	GRCh38
NC_000023.10:g.153641897G>C , CM000685.1:g.153641897G>C	GRCh37
NC_000023.9:g.153295091G>C	NCBI36
NG_009634.1:g.7021G>C
NG_012884.2:g.3529C>G
NG_009634.2:g.7026G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.897G>C
ENST00000698235.1:n.437G>C
ENST00000698317.1:n.1423G>C
ENST00000698318.1:n.1296G>C
ENST00000470127.2:n.641G>C
ENST00000475699.6:c.417G>C	ENSP00000419854.3:p.Val139=
ENST00000476800.2:n.1549G>C
ENST00000483674.3:n.254G>C
ENST00000601016.6:c.363G>C MANE Select	ENSP00000469981.1:p.Val121=
ENST00000612012.5:c.363G>C	ENSP00000482070.2:p.Val121=
ENST00000612460.5:c.363G>C	ENSP00000481037.1:p.Val121=
ENST00000614595.2:n.1800G>C
ENST00000615658.5:n.676G>C
ENST00000616020.5:c.417G>C	ENSP00000483636.2:p.Val139=
ENST00000617701.5:c.*181G>C	ENSP00000481645.1:n.*181G>C
ENST00000621647.2:n.645G>C
ENST00000652354.1:c.87G>C	ENSP00000498734.1:p.Val29=
ENST00000652358.1:c.156G>C	ENSP00000498464.1:p.Val52=
ENST00000652390.1:c.282G>C	ENSP00000498858.1:p.Val94=
ENST00000652476.1:n.753G>C
ENST00000652644.1:c.9G>C	ENSP00000498496.1:p.Val3=
ENST00000652682.1:c.363G>C	ENSP00000498288.1:p.Val121=
ENST00000652685.1:n.521G>C
ENST00000369776.8:c.288G>C	ENSP00000358791.4:p.Val96=
ENST00000426231.5:c.279G>C
ENST00000439735.2:c.363G>C	ENSP00000398193.1:p.Val121=
ENST00000470127.1:n.32G>C
ENST00000475699.5:c.363G>C	ENSP00000419854.2:p.Val121=
ENST00000476679.5:n.276G>C
ENST00000476800.1:n.470G>C
ENST00000479875.1:n.392G>C
ENST00000483674.2:n.72G>C
ENST00000483780.5:n.137G>C
ENST00000601016.5:c.363G>C	ENSP00000469981.1:p.Val121=
ENST00000612012.4:c.417G>C	ENSP00000482070.1:p.Val139=
ENST00000612460.4:c.363G>C	ENSP00000481037.1:p.Val121=
ENST00000613002.4:c.363G>C	ENSP00000478154.1:p.Val121=
ENST00000613634.4:n.683G>C
ENST00000615658.4:n.776G>C
ENST00000615986.4:c.*181G>C	ENSP00000480133.1:n.*181G>C
ENST00000616020.4:c.417G>C	ENSP00000483636.1:p.Val139=
ENST00000617701.4:c.*193G>C	ENSP00000481645.1:n.*193G>C
ENST00000620808.4:c.*162G>C	ENSP00000479311.1:n.*162G>C
ENST00000621647.1:n.877G>C
NM_000116.4:c.363G>C	NP_000107.1:p.Val121=
NM_001303465.1:c.417G>C	NP_001290394.1:p.Val139=
NM_181311.3:c.363G>C	NP_851828.1:p.Val121=
NM_181312.3:c.363G>C	NP_851829.1:p.Val121=
NM_181313.3:c.363G>C	NP_851830.1:p.Val121=
NR_024048.2:n.795G>C
XM_006724836.1:c.417G>C	XP_006724899.1:p.Val139=
XM_006724837.1:c.417G>C	XP_006724900.1:p.Val139=
XM_006724839.1:c.417G>C	XP_006724902.1:p.Val139=
XM_006724841.2:c.156G>C	XP_006724904.1:p.Val52=
XM_006724842.2:c.156G>C	XP_006724905.1:p.Val52=
XM_011531189.1:c.417G>C	XP_011529491.1:p.Val139=
XM_011531190.1:c.156G>C	XP_011529492.1:p.Val52=
XM_011531191.1:c.87G>C	XP_011529493.1:p.Val29=
XM_011531192.1:c.84G>C	XP_011529494.1:p.Val28=
XR_938511.1:n.720G>C
XM_006724841.4:c.156G>C	XP_006724904.1:p.Val52=
XM_006724842.4:c.156G>C	XP_006724905.1:p.Val52=
XM_011531191.2:c.87G>C	XP_011529493.1:p.Val29=
XM_017029761.1:c.363G>C	XP_016885250.1:p.Val121=
XM_017029762.1:c.417G>C	XP_016885251.1:p.Val139=
XM_017029763.1:c.363G>C	XP_016885252.1:p.Val121=
XM_017029764.1:c.84G>C	XP_016885253.1:p.Val28=
XM_017029765.2:c.156G>C	XP_016885254.1:p.Val52=
XM_024452431.1:c.417G>C	XP_024308199.1:p.Val139=
NM_000116.5:c.363G>C MANE Select	NP_000107.1:p.Val121=
NM_001303465.2:c.417G>C	NP_001290394.1:p.Val139=
NM_181311.4:c.363G>C	NP_851828.1:p.Val121=
NM_181312.4:c.363G>C	NP_851829.1:p.Val121=
NM_181313.4:c.363G>C	NP_851830.1:p.Val121=
NR_024048.3:n.774G>C