Canonical Allele Identifier: CA415185379

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649016G>C (hg19) ; chrX:g.154420677G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420677G>C , CM000685.2:g.154420677G>C	GRCh38
NC_000023.10:g.153649016G>C , CM000685.1:g.153649016G>C	GRCh37
NC_000023.9:g.153302210G>C	NCBI36
NG_009634.1:g.14140G>C
NG_009634.2:g.14143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1529G>C
ENST00000698317.1:n.2145G>C
ENST00000698318.1:n.1928G>C
ENST00000698319.1:n.1291G>C
ENST00000698320.1:n.1179G>C
ENST00000470127.2:n.1192G>C
ENST00000475699.6:c.683G>C	ENSP00000419854.3:p.Gly228Ala
ENST00000483674.3:n.601G>C
ENST00000601016.6:c.719G>C MANE Select	ENSP00000469981.1:p.Gly240Ala
ENST00000612012.5:c.677G>C	ENSP00000482070.2:p.Gly226Ala
ENST00000612460.5:c.629G>C	ENSP00000481037.1:p.Gly210Ala
ENST00000614595.2:n.2066G>C
ENST00000615658.5:n.1308G>C
ENST00000616020.5:c.731G>C	ENSP00000483636.2:p.Gly244Ala
ENST00000617701.5:c.*732G>C	ENSP00000481645.1:n.*732G>C
ENST00000651139.1:c.-65G>C	ENSP00000498957.1:n.-65G>C
ENST00000652354.1:c.401G>C	ENSP00000498734.1:p.Gly134Ala
ENST00000652358.1:c.512G>C	ENSP00000498464.1:p.Gly171Ala
ENST00000652390.1:c.638G>C	ENSP00000498858.1:p.Gly213Ala
ENST00000652476.1:n.1385G>C
ENST00000652644.1:c.332G>C	ENSP00000498496.1:p.Gly111Ala
ENST00000652682.1:c.776G>C	ENSP00000498288.1:p.Gly259Ala
ENST00000652685.1:n.1072G>C
ENST00000369776.8:c.629G>C	ENSP00000358791.4:p.Gly210Ala
ENST00000426231.5:c.716G>C
ENST00000475699.5:c.677G>C	ENSP00000419854.2:p.Gly226Ala
ENST00000494912.5:n.1408G>C
ENST00000498029.1:n.177G>C
ENST00000601016.5:c.719G>C	ENSP00000469981.1:p.Gly240Ala
ENST00000612460.4:c.629G>C	ENSP00000481037.1:p.Gly210Ala
ENST00000613002.4:c.587G>C	ENSP00000478154.1:p.Gly196Ala
ENST00000615986.4:c.*447G>C	ENSP00000480133.1:n.*447G>C
NM_000116.4:c.719G>C	NP_000107.1:p.Gly240Ala
NM_001303465.1:c.731G>C	NP_001290394.1:p.Gly244Ala
NM_181311.3:c.629G>C	NP_851828.1:p.Gly210Ala
NM_181312.3:c.677G>C	NP_851829.1:p.Gly226Ala
NM_181313.3:c.587G>C	NP_851830.1:p.Gly196Ala
NR_024048.2:n.1061G>C
XM_006724836.1:c.773G>C	XP_006724899.1:p.Gly258Ala
XM_006724837.1:c.758G>C	XP_006724900.1:p.Gly253Ala
XM_006724839.1:c.641G>C	XP_006724902.1:p.Gly214Ala
XM_006724841.2:c.512G>C	XP_006724904.1:p.Gly171Ala
XM_006724842.2:c.422G>C	XP_006724905.1:p.Gly141Ala
XM_011531189.1:c.560G>C	XP_011529491.1:p.Gly187Ala
XM_011531190.1:c.512G>C	XP_011529492.1:p.Gly171Ala
XM_011531191.1:c.443G>C	XP_011529493.1:p.Gly148Ala
XM_011531192.1:c.440G>C	XP_011529494.1:p.Gly147Ala
XR_938511.1:n.1067G>C
XM_006724841.4:c.512G>C	XP_006724904.1:p.Gly171Ala
XM_006724842.4:c.422G>C	XP_006724905.1:p.Gly141Ala
XM_011531191.2:c.443G>C	XP_011529493.1:p.Gly148Ala
XM_017029761.1:c.704G>C	XP_016885250.1:p.Gly235Ala
XM_017029762.1:c.683G>C	XP_016885251.1:p.Gly228Ala
XM_017029763.1:c.506G>C	XP_016885252.1:p.Gly169Ala
XM_017029764.1:c.440G>C	XP_016885253.1:p.Gly147Ala
XM_017029765.2:c.380G>C	XP_016885254.1:p.Gly127Ala
XM_024452431.1:c.677G>C	XP_024308199.1:p.Gly226Ala
NM_000116.5:c.719G>C MANE Select	NP_000107.1:p.Gly240Ala
NM_001303465.2:c.731G>C	NP_001290394.1:p.Gly244Ala
NM_181311.4:c.629G>C	NP_851828.1:p.Gly210Ala
NM_181312.4:c.677G>C	NP_851829.1:p.Gly226Ala
NM_181313.4:c.587G>C	NP_851830.1:p.Gly196Ala
NR_024048.3:n.1040G>C