Canonical Allele Identifier: CA415184299

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648409A>C (hg19) ; chrX:g.154420070A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420070A>C , CM000685.2:g.154420070A>C	GRCh38
NC_000023.10:g.153648409A>C , CM000685.1:g.153648409A>C	GRCh37
NC_000023.9:g.153301603A>C	NCBI36
NG_009634.1:g.13533A>C
NG_009634.2:g.13536A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1432A>C
ENST00000698317.1:n.2048A>C
ENST00000698318.1:n.1831A>C
ENST00000698319.1:n.1194A>C
ENST00000698320.1:n.1082A>C
ENST00000470127.2:n.1095A>C
ENST00000475699.6:c.586A>C	ENSP00000419854.3:p.Ile196Leu
ENST00000483674.3:n.504A>C
ENST00000601016.6:c.622A>C MANE Select	ENSP00000469981.1:p.Ile208Leu
ENST00000612012.5:c.580A>C	ENSP00000482070.2:p.Ile194Leu
ENST00000612460.5:c.532A>C	ENSP00000481037.1:p.Ile178Leu
ENST00000614595.2:n.1969A>C
ENST00000615658.5:n.1211A>C
ENST00000616020.5:c.634A>C	ENSP00000483636.2:p.Ile212Leu
ENST00000617701.5:c.*635A>C	ENSP00000481645.1:n.*635A>C
ENST00000652354.1:c.304A>C	ENSP00000498734.1:p.Ile102Leu
ENST00000652358.1:c.415A>C	ENSP00000498464.1:p.Ile139Leu
ENST00000652390.1:c.541A>C	ENSP00000498858.1:p.Ile181Leu
ENST00000652476.1:n.1288A>C
ENST00000652644.1:c.235A>C	ENSP00000498496.1:p.Ile79Leu
ENST00000652682.1:c.679A>C	ENSP00000498288.1:p.Ile227Leu
ENST00000652685.1:n.975A>C
ENST00000369776.8:c.415A>C	ENSP00000358791.4:p.Ile139Leu
ENST00000426231.5:c.619A>C
ENST00000439735.2:c.529A>C	ENSP00000398193.1:p.Ile177Leu
ENST00000470127.1:n.201A>C
ENST00000475699.5:c.580A>C	ENSP00000419854.2:p.Ile194Leu
ENST00000494912.5:n.1311A>C
ENST00000498029.1:n.80A>C
ENST00000601016.5:c.622A>C	ENSP00000469981.1:p.Ile208Leu
ENST00000612012.4:c.586A>C	ENSP00000482070.1:p.Ile196Leu
ENST00000612460.4:c.532A>C	ENSP00000481037.1:p.Ile178Leu
ENST00000613002.4:c.490A>C	ENSP00000478154.1:p.Ile164Leu
ENST00000615658.4:n.1311A>C
ENST00000615986.4:c.*350A>C	ENSP00000480133.1:n.*350A>C
ENST00000620808.4:c.*208A>C	ENSP00000479311.1:n.*208A>C
NM_000116.4:c.622A>C	NP_000107.1:p.Ile208Leu
NM_001303465.1:c.634A>C	NP_001290394.1:p.Ile212Leu
NM_181311.3:c.532A>C	NP_851828.1:p.Ile178Leu
NM_181312.3:c.580A>C	NP_851829.1:p.Ile194Leu
NM_181313.3:c.490A>C	NP_851830.1:p.Ile164Leu
NR_024048.2:n.964A>C
XM_006724836.1:c.676A>C	XP_006724899.1:p.Ile226Leu
XM_006724837.1:c.544A>C	XP_006724900.1:p.Ile182Leu
XM_006724839.1:c.544A>C	XP_006724902.1:p.Ile182Leu
XM_006724841.2:c.415A>C	XP_006724904.1:p.Ile139Leu
XM_006724842.2:c.325A>C	XP_006724905.1:p.Ile109Leu
XM_011531189.1:c.463A>C	XP_011529491.1:p.Ile155Leu
XM_011531190.1:c.415A>C	XP_011529492.1:p.Ile139Leu
XM_011531191.1:c.346A>C	XP_011529493.1:p.Ile116Leu
XM_011531192.1:c.343A>C	XP_011529494.1:p.Ile115Leu
XR_938511.1:n.970A>C
XM_006724841.4:c.415A>C	XP_006724904.1:p.Ile139Leu
XM_006724842.4:c.325A>C	XP_006724905.1:p.Ile109Leu
XM_011531191.2:c.346A>C	XP_011529493.1:p.Ile116Leu
XM_017029761.1:c.490A>C	XP_016885250.1:p.Ile164Leu
XM_017029762.1:c.586A>C	XP_016885251.1:p.Ile196Leu
XM_017029763.1:c.409A>C	XP_016885252.1:p.Ile137Leu
XM_017029764.1:c.343A>C	XP_016885253.1:p.Ile115Leu
XM_017029765.2:c.283A>C	XP_016885254.1:p.Ile95Leu
XM_024452431.1:c.463A>C	XP_024308199.1:p.Ile155Leu
NM_000116.5:c.622A>C MANE Select	NP_000107.1:p.Ile208Leu
NM_001303465.2:c.634A>C	NP_001290394.1:p.Ile212Leu
NM_181311.4:c.532A>C	NP_851828.1:p.Ile178Leu
NM_181312.4:c.580A>C	NP_851829.1:p.Ile194Leu
NM_181313.4:c.490A>C	NP_851830.1:p.Ile164Leu
NR_024048.3:n.943A>C