Canonical Allele Identifier: CA519278012

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648387T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420048T>C , CM000685.2:g.154420048T>C	GRCh38
NC_000023.10:g.153648387T>C , CM000685.1:g.153648387T>C	GRCh37
NC_000023.9:g.153301581T>C	NCBI36
NG_009634.1:g.13511T>C
NG_009634.2:g.13514T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1410T>C
ENST00000698317.1:n.2026T>C
ENST00000698318.1:n.1809T>C
ENST00000698319.1:n.1172T>C
ENST00000698320.1:n.1060T>C
ENST00000470127.2:n.1073T>C
ENST00000475699.6:c.564T>C	ENSP00000419854.3:p.Ile188=
ENST00000483674.3:n.482T>C
ENST00000601016.6:c.600T>C MANE Select	ENSP00000469981.1:p.Ile200=
ENST00000612012.5:c.558T>C	ENSP00000482070.2:p.Ile186=
ENST00000612460.5:c.510T>C	ENSP00000481037.1:p.Ile170=
ENST00000614595.2:n.1947T>C
ENST00000615658.5:n.1189T>C
ENST00000616020.5:c.612T>C	ENSP00000483636.2:p.Ile204=
ENST00000617701.5:c.*613T>C	ENSP00000481645.1:n.*613T>C
ENST00000652354.1:c.282T>C	ENSP00000498734.1:p.Ile94=
ENST00000652358.1:c.393T>C	ENSP00000498464.1:p.Ile131=
ENST00000652390.1:c.519T>C	ENSP00000498858.1:p.Ile173=
ENST00000652476.1:n.1266T>C
ENST00000652644.1:c.213T>C	ENSP00000498496.1:p.Ile71=
ENST00000652682.1:c.657T>C	ENSP00000498288.1:p.Ile219=
ENST00000652685.1:n.953T>C
ENST00000369776.8:c.393T>C	ENSP00000358791.4:p.Ile131=
ENST00000426231.5:c.597T>C
ENST00000439735.2:c.507T>C	ENSP00000398193.1:p.Ile169=
ENST00000470127.1:n.179T>C
ENST00000475699.5:c.558T>C	ENSP00000419854.2:p.Ile186=
ENST00000494912.5:n.1289T>C
ENST00000498029.1:n.58T>C
ENST00000601016.5:c.600T>C	ENSP00000469981.1:p.Ile200=
ENST00000612012.4:c.564T>C	ENSP00000482070.1:p.Ile188=
ENST00000612460.4:c.510T>C	ENSP00000481037.1:p.Ile170=
ENST00000613002.4:c.468T>C	ENSP00000478154.1:p.Ile156=
ENST00000615658.4:n.1289T>C
ENST00000615986.4:c.*328T>C	ENSP00000480133.1:n.*328T>C
ENST00000620808.4:c.*186T>C	ENSP00000479311.1:n.*186T>C
NM_000116.4:c.600T>C	NP_000107.1:p.Ile200=
NM_001303465.1:c.612T>C	NP_001290394.1:p.Ile204=
NM_181311.3:c.510T>C	NP_851828.1:p.Ile170=
NM_181312.3:c.558T>C	NP_851829.1:p.Ile186=
NM_181313.3:c.468T>C	NP_851830.1:p.Ile156=
NR_024048.2:n.942T>C
XM_006724836.1:c.654T>C	XP_006724899.1:p.Ile218=
XM_006724837.1:c.522T>C	XP_006724900.1:p.Ile174=
XM_006724839.1:c.522T>C	XP_006724902.1:p.Ile174=
XM_006724841.2:c.393T>C	XP_006724904.1:p.Ile131=
XM_006724842.2:c.303T>C	XP_006724905.1:p.Ile101=
XM_011531189.1:c.441T>C	XP_011529491.1:p.Ile147=
XM_011531190.1:c.393T>C	XP_011529492.1:p.Ile131=
XM_011531191.1:c.324T>C	XP_011529493.1:p.Ile108=
XM_011531192.1:c.321T>C	XP_011529494.1:p.Ile107=
XR_938511.1:n.948T>C
XM_006724841.4:c.393T>C	XP_006724904.1:p.Ile131=
XM_006724842.4:c.303T>C	XP_006724905.1:p.Ile101=
XM_011531191.2:c.324T>C	XP_011529493.1:p.Ile108=
XM_017029761.1:c.468T>C	XP_016885250.1:p.Ile156=
XM_017029762.1:c.564T>C	XP_016885251.1:p.Ile188=
XM_017029763.1:c.387T>C	XP_016885252.1:p.Ile129=
XM_017029764.1:c.321T>C	XP_016885253.1:p.Ile107=
XM_017029765.2:c.261T>C	XP_016885254.1:p.Ile87=
XM_024452431.1:c.441T>C	XP_024308199.1:p.Ile147=
NM_000116.5:c.600T>C MANE Select	NP_000107.1:p.Ile200=
NM_001303465.2:c.612T>C	NP_001290394.1:p.Ile204=
NM_181311.4:c.510T>C	NP_851828.1:p.Ile170=
NM_181312.4:c.558T>C	NP_851829.1:p.Ile186=
NM_181313.4:c.468T>C	NP_851830.1:p.Ile156=
NR_024048.3:n.921T>C