Canonical Allele Identifier: CA519278267
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153649038T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420699T>A , CM000685.2:g.154420699T>A GRCh38
NC_000023.10:g.153649038T>A , CM000685.1:g.153649038T>A GRCh37
NC_000023.9:g.153302232T>A NCBI36
NG_009634.1:g.14162T>A
NG_009634.2:g.14165T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1551T>A
ENST00000698317.1:n.2167T>A
ENST00000698318.1:n.1950T>A
ENST00000698319.1:n.1313T>A
ENST00000698320.1:n.1201T>A
ENST00000470127.2:n.1214T>A
ENST00000475699.6:c.705T>A ENSP00000419854.3:p.Pro235=
ENST00000483674.3:n.623T>A
ENST00000601016.6:c.741T>A MANE Select ENSP00000469981.1:p.Pro247=
ENST00000612012.5:c.699T>A ENSP00000482070.2:p.Pro233=
ENST00000612460.5:c.651T>A ENSP00000481037.1:p.Pro217=
ENST00000614595.2:n.2088T>A
ENST00000615658.5:n.1330T>A
ENST00000616020.5:c.753T>A ENSP00000483636.2:p.Pro251=
ENST00000617701.5:c.*754T>A ENSP00000481645.1:n.*754T>A
ENST00000651139.1:c.-43T>A ENSP00000498957.1:n.-43T>A
ENST00000652354.1:c.423T>A ENSP00000498734.1:p.Pro141=
ENST00000652358.1:c.534T>A ENSP00000498464.1:p.Pro178=
ENST00000652390.1:c.660T>A ENSP00000498858.1:p.Pro220=
ENST00000652476.1:n.1407T>A
ENST00000652644.1:c.354T>A ENSP00000498496.1:p.Pro118=
ENST00000652682.1:c.798T>A ENSP00000498288.1:p.Pro266=
ENST00000652685.1:n.1094T>A
ENST00000369776.8:c.651T>A ENSP00000358791.4:p.Pro217=
ENST00000426231.5:c.738T>A
ENST00000475699.5:c.699T>A ENSP00000419854.2:p.Pro233=
ENST00000494912.5:n.1430T>A
ENST00000498029.1:n.199T>A
ENST00000601016.5:c.741T>A ENSP00000469981.1:p.Pro247=
ENST00000612460.4:c.651T>A ENSP00000481037.1:p.Pro217=
ENST00000613002.4:c.609T>A ENSP00000478154.1:p.Pro203=
ENST00000615986.4:c.*469T>A ENSP00000480133.1:n.*469T>A
NM_000116.4:c.741T>A NP_000107.1:p.Pro247=
NM_001303465.1:c.753T>A NP_001290394.1:p.Pro251=
NM_181311.3:c.651T>A NP_851828.1:p.Pro217=
NM_181312.3:c.699T>A NP_851829.1:p.Pro233=
NM_181313.3:c.609T>A NP_851830.1:p.Pro203=
NR_024048.2:n.1083T>A
XM_006724836.1:c.795T>A XP_006724899.1:p.Pro265=
XM_006724837.1:c.780T>A XP_006724900.1:p.Pro260=
XM_006724839.1:c.663T>A XP_006724902.1:p.Pro221=
XM_006724841.2:c.534T>A XP_006724904.1:p.Pro178=
XM_006724842.2:c.444T>A XP_006724905.1:p.Pro148=
XM_011531189.1:c.582T>A XP_011529491.1:p.Pro194=
XM_011531190.1:c.534T>A XP_011529492.1:p.Pro178=
XM_011531191.1:c.465T>A XP_011529493.1:p.Pro155=
XM_011531192.1:c.462T>A XP_011529494.1:p.Pro154=
XR_938511.1:n.1089T>A
XM_006724841.4:c.534T>A XP_006724904.1:p.Pro178=
XM_006724842.4:c.444T>A XP_006724905.1:p.Pro148=
XM_011531191.2:c.465T>A XP_011529493.1:p.Pro155=
XM_017029761.1:c.726T>A XP_016885250.1:p.Pro242=
XM_017029762.1:c.705T>A XP_016885251.1:p.Pro235=
XM_017029763.1:c.528T>A XP_016885252.1:p.Pro176=
XM_017029764.1:c.462T>A XP_016885253.1:p.Pro154=
XM_017029765.2:c.402T>A XP_016885254.1:p.Pro134=
XM_024452431.1:c.699T>A XP_024308199.1:p.Pro233=
NM_000116.5:c.741T>A MANE Select NP_000107.1:p.Pro247=
NM_001303465.2:c.753T>A NP_001290394.1:p.Pro251=
NM_181311.4:c.651T>A NP_851828.1:p.Pro217=
NM_181312.4:c.699T>A NP_851829.1:p.Pro233=
NM_181313.4:c.609T>A NP_851830.1:p.Pro203=
NR_024048.3:n.1062T>A