Canonical Allele Identifier: CA519278276
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153649047G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420708G>A , CM000685.2:g.154420708G>A GRCh38
NC_000023.10:g.153649047G>A , CM000685.1:g.153649047G>A GRCh37
NC_000023.9:g.153302241G>A NCBI36
NG_009634.1:g.14171G>A
NG_009634.2:g.14174G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1560G>A
ENST00000698317.1:n.2176G>A
ENST00000698318.1:n.1959G>A
ENST00000698319.1:n.1322G>A
ENST00000698320.1:n.1210G>A
ENST00000470127.2:n.1223G>A
ENST00000475699.6:c.714G>A ENSP00000419854.3:p.Glu238=
ENST00000483674.3:n.632G>A
ENST00000601016.6:c.750G>A MANE Select ENSP00000469981.1:p.Glu250=
ENST00000612012.5:c.708G>A ENSP00000482070.2:p.Glu236=
ENST00000612460.5:c.660G>A ENSP00000481037.1:p.Glu220=
ENST00000614595.2:n.2097G>A
ENST00000615658.5:n.1339G>A
ENST00000616020.5:c.762G>A ENSP00000483636.2:p.Glu254=
ENST00000617701.5:c.*763G>A ENSP00000481645.1:n.*763G>A
ENST00000651139.1:c.-34G>A ENSP00000498957.1:n.-34G>A
ENST00000652354.1:c.432G>A ENSP00000498734.1:p.Glu144=
ENST00000652358.1:c.543G>A ENSP00000498464.1:p.Glu181=
ENST00000652390.1:c.669G>A ENSP00000498858.1:p.Glu223=
ENST00000652476.1:n.1416G>A
ENST00000652644.1:c.363G>A ENSP00000498496.1:p.Glu121=
ENST00000652682.1:c.807G>A ENSP00000498288.1:p.Glu269=
ENST00000652685.1:n.1103G>A
ENST00000369776.8:c.660G>A ENSP00000358791.4:p.Glu220=
ENST00000426231.5:c.747G>A
ENST00000475699.5:c.708G>A ENSP00000419854.2:p.Glu236=
ENST00000494912.5:n.1439G>A
ENST00000498029.1:n.208G>A
ENST00000601016.5:c.750G>A ENSP00000469981.1:p.Glu250=
ENST00000612460.4:c.660G>A ENSP00000481037.1:p.Glu220=
ENST00000613002.4:c.618G>A ENSP00000478154.1:p.Glu206=
ENST00000615986.4:c.*478G>A ENSP00000480133.1:n.*478G>A
NM_000116.4:c.750G>A NP_000107.1:p.Glu250=
NM_001303465.1:c.762G>A NP_001290394.1:p.Glu254=
NM_181311.3:c.660G>A NP_851828.1:p.Glu220=
NM_181312.3:c.708G>A NP_851829.1:p.Glu236=
NM_181313.3:c.618G>A NP_851830.1:p.Glu206=
NR_024048.2:n.1092G>A
XM_006724836.1:c.804G>A XP_006724899.1:p.Glu268=
XM_006724837.1:c.789G>A XP_006724900.1:p.Glu263=
XM_006724839.1:c.672G>A XP_006724902.1:p.Glu224=
XM_006724841.2:c.543G>A XP_006724904.1:p.Glu181=
XM_006724842.2:c.453G>A XP_006724905.1:p.Glu151=
XM_011531189.1:c.591G>A XP_011529491.1:p.Glu197=
XM_011531190.1:c.543G>A XP_011529492.1:p.Glu181=
XM_011531191.1:c.474G>A XP_011529493.1:p.Glu158=
XM_011531192.1:c.471G>A XP_011529494.1:p.Glu157=
XR_938511.1:n.1098G>A
XM_006724841.4:c.543G>A XP_006724904.1:p.Glu181=
XM_006724842.4:c.453G>A XP_006724905.1:p.Glu151=
XM_011531191.2:c.474G>A XP_011529493.1:p.Glu158=
XM_017029761.1:c.735G>A XP_016885250.1:p.Glu245=
XM_017029762.1:c.714G>A XP_016885251.1:p.Glu238=
XM_017029763.1:c.537G>A XP_016885252.1:p.Glu179=
XM_017029764.1:c.471G>A XP_016885253.1:p.Glu157=
XM_017029765.2:c.411G>A XP_016885254.1:p.Glu137=
XM_024452431.1:c.708G>A XP_024308199.1:p.Glu236=
NM_000116.5:c.750G>A MANE Select NP_000107.1:p.Glu250=
NM_001303465.2:c.762G>A NP_001290394.1:p.Glu254=
NM_181311.4:c.660G>A NP_851828.1:p.Glu220=
NM_181312.4:c.708G>A NP_851829.1:p.Glu236=
NM_181313.4:c.618G>A NP_851830.1:p.Glu206=
NR_024048.3:n.1071G>A