Canonical Allele Identifier: CA519278009

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648384G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420045G>C , CM000685.2:g.154420045G>C	GRCh38
NC_000023.10:g.153648384G>C , CM000685.1:g.153648384G>C	GRCh37
NC_000023.9:g.153301578G>C	NCBI36
NG_009634.1:g.13508G>C
NG_009634.2:g.13511G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1407G>C
ENST00000698317.1:n.2023G>C
ENST00000698318.1:n.1806G>C
ENST00000698319.1:n.1169G>C
ENST00000698320.1:n.1057G>C
ENST00000470127.2:n.1070G>C
ENST00000475699.6:c.561G>C	ENSP00000419854.3:p.Leu187=
ENST00000483674.3:n.479G>C
ENST00000601016.6:c.597G>C MANE Select	ENSP00000469981.1:p.Leu199=
ENST00000612012.5:c.555G>C	ENSP00000482070.2:p.Leu185=
ENST00000612460.5:c.507G>C	ENSP00000481037.1:p.Leu169=
ENST00000614595.2:n.1944G>C
ENST00000615658.5:n.1186G>C
ENST00000616020.5:c.609G>C	ENSP00000483636.2:p.Leu203=
ENST00000617701.5:c.*610G>C	ENSP00000481645.1:n.*610G>C
ENST00000652354.1:c.279G>C	ENSP00000498734.1:p.Leu93=
ENST00000652358.1:c.390G>C	ENSP00000498464.1:p.Leu130=
ENST00000652390.1:c.516G>C	ENSP00000498858.1:p.Leu172=
ENST00000652476.1:n.1263G>C
ENST00000652644.1:c.210G>C	ENSP00000498496.1:p.Leu70=
ENST00000652682.1:c.654G>C	ENSP00000498288.1:p.Leu218=
ENST00000652685.1:n.950G>C
ENST00000369776.8:c.390G>C	ENSP00000358791.4:p.Leu130=
ENST00000426231.5:c.594G>C
ENST00000439735.2:c.504G>C	ENSP00000398193.1:p.Leu168=
ENST00000470127.1:n.176G>C
ENST00000475699.5:c.555G>C	ENSP00000419854.2:p.Leu185=
ENST00000494912.5:n.1286G>C
ENST00000498029.1:n.55G>C
ENST00000601016.5:c.597G>C	ENSP00000469981.1:p.Leu199=
ENST00000612012.4:c.561G>C	ENSP00000482070.1:p.Leu187=
ENST00000612460.4:c.507G>C	ENSP00000481037.1:p.Leu169=
ENST00000613002.4:c.465G>C	ENSP00000478154.1:p.Leu155=
ENST00000615658.4:n.1286G>C
ENST00000615986.4:c.*325G>C	ENSP00000480133.1:n.*325G>C
ENST00000620808.4:c.*183G>C	ENSP00000479311.1:n.*183G>C
NM_000116.4:c.597G>C	NP_000107.1:p.Leu199=
NM_001303465.1:c.609G>C	NP_001290394.1:p.Leu203=
NM_181311.3:c.507G>C	NP_851828.1:p.Leu169=
NM_181312.3:c.555G>C	NP_851829.1:p.Leu185=
NM_181313.3:c.465G>C	NP_851830.1:p.Leu155=
NR_024048.2:n.939G>C
XM_006724836.1:c.651G>C	XP_006724899.1:p.Leu217=
XM_006724837.1:c.519G>C	XP_006724900.1:p.Leu173=
XM_006724839.1:c.519G>C	XP_006724902.1:p.Leu173=
XM_006724841.2:c.390G>C	XP_006724904.1:p.Leu130=
XM_006724842.2:c.300G>C	XP_006724905.1:p.Leu100=
XM_011531189.1:c.438G>C	XP_011529491.1:p.Leu146=
XM_011531190.1:c.390G>C	XP_011529492.1:p.Leu130=
XM_011531191.1:c.321G>C	XP_011529493.1:p.Leu107=
XM_011531192.1:c.318G>C	XP_011529494.1:p.Leu106=
XR_938511.1:n.945G>C
XM_006724841.4:c.390G>C	XP_006724904.1:p.Leu130=
XM_006724842.4:c.300G>C	XP_006724905.1:p.Leu100=
XM_011531191.2:c.321G>C	XP_011529493.1:p.Leu107=
XM_017029761.1:c.465G>C	XP_016885250.1:p.Leu155=
XM_017029762.1:c.561G>C	XP_016885251.1:p.Leu187=
XM_017029763.1:c.384G>C	XP_016885252.1:p.Leu128=
XM_017029764.1:c.318G>C	XP_016885253.1:p.Leu106=
XM_017029765.2:c.258G>C	XP_016885254.1:p.Leu86=
XM_024452431.1:c.438G>C	XP_024308199.1:p.Leu146=
NM_000116.5:c.597G>C MANE Select	NP_000107.1:p.Leu199=
NM_001303465.2:c.609G>C	NP_001290394.1:p.Leu203=
NM_181311.4:c.507G>C	NP_851828.1:p.Leu169=
NM_181312.4:c.555G>C	NP_851829.1:p.Leu185=
NM_181313.4:c.465G>C	NP_851830.1:p.Leu155=
NR_024048.3:n.918G>C