Canonical Allele Identifier: CA519278180
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153649017G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420678G>T , CM000685.2:g.154420678G>T GRCh38
NC_000023.10:g.153649017G>T , CM000685.1:g.153649017G>T GRCh37
NC_000023.9:g.153302211G>T NCBI36
NG_009634.1:g.14141G>T
NG_009634.2:g.14144G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1530G>T
ENST00000698317.1:n.2146G>T
ENST00000698318.1:n.1929G>T
ENST00000698319.1:n.1292G>T
ENST00000698320.1:n.1180G>T
ENST00000470127.2:n.1193G>T
ENST00000475699.6:c.684G>T ENSP00000419854.3:p.Gly228=
ENST00000483674.3:n.602G>T
ENST00000601016.6:c.720G>T MANE Select ENSP00000469981.1:p.Gly240=
ENST00000612012.5:c.678G>T ENSP00000482070.2:p.Gly226=
ENST00000612460.5:c.630G>T ENSP00000481037.1:p.Gly210=
ENST00000614595.2:n.2067G>T
ENST00000615658.5:n.1309G>T
ENST00000616020.5:c.732G>T ENSP00000483636.2:p.Gly244=
ENST00000617701.5:c.*733G>T ENSP00000481645.1:n.*733G>T
ENST00000651139.1:c.-64G>T ENSP00000498957.1:n.-64G>T
ENST00000652354.1:c.402G>T ENSP00000498734.1:p.Gly134=
ENST00000652358.1:c.513G>T ENSP00000498464.1:p.Gly171=
ENST00000652390.1:c.639G>T ENSP00000498858.1:p.Gly213=
ENST00000652476.1:n.1386G>T
ENST00000652644.1:c.333G>T ENSP00000498496.1:p.Gly111=
ENST00000652682.1:c.777G>T ENSP00000498288.1:p.Gly259=
ENST00000652685.1:n.1073G>T
ENST00000369776.8:c.630G>T ENSP00000358791.4:p.Gly210=
ENST00000426231.5:c.717G>T
ENST00000475699.5:c.678G>T ENSP00000419854.2:p.Gly226=
ENST00000494912.5:n.1409G>T
ENST00000498029.1:n.178G>T
ENST00000601016.5:c.720G>T ENSP00000469981.1:p.Gly240=
ENST00000612460.4:c.630G>T ENSP00000481037.1:p.Gly210=
ENST00000613002.4:c.588G>T ENSP00000478154.1:p.Gly196=
ENST00000615986.4:c.*448G>T ENSP00000480133.1:n.*448G>T
NM_000116.4:c.720G>T NP_000107.1:p.Gly240=
NM_001303465.1:c.732G>T NP_001290394.1:p.Gly244=
NM_181311.3:c.630G>T NP_851828.1:p.Gly210=
NM_181312.3:c.678G>T NP_851829.1:p.Gly226=
NM_181313.3:c.588G>T NP_851830.1:p.Gly196=
NR_024048.2:n.1062G>T
XM_006724836.1:c.774G>T XP_006724899.1:p.Gly258=
XM_006724837.1:c.759G>T XP_006724900.1:p.Gly253=
XM_006724839.1:c.642G>T XP_006724902.1:p.Gly214=
XM_006724841.2:c.513G>T XP_006724904.1:p.Gly171=
XM_006724842.2:c.423G>T XP_006724905.1:p.Gly141=
XM_011531189.1:c.561G>T XP_011529491.1:p.Gly187=
XM_011531190.1:c.513G>T XP_011529492.1:p.Gly171=
XM_011531191.1:c.444G>T XP_011529493.1:p.Gly148=
XM_011531192.1:c.441G>T XP_011529494.1:p.Gly147=
XR_938511.1:n.1068G>T
XM_006724841.4:c.513G>T XP_006724904.1:p.Gly171=
XM_006724842.4:c.423G>T XP_006724905.1:p.Gly141=
XM_011531191.2:c.444G>T XP_011529493.1:p.Gly148=
XM_017029761.1:c.705G>T XP_016885250.1:p.Gly235=
XM_017029762.1:c.684G>T XP_016885251.1:p.Gly228=
XM_017029763.1:c.507G>T XP_016885252.1:p.Gly169=
XM_017029764.1:c.441G>T XP_016885253.1:p.Gly147=
XM_017029765.2:c.381G>T XP_016885254.1:p.Gly127=
XM_024452431.1:c.678G>T XP_024308199.1:p.Gly226=
NM_000116.5:c.720G>T MANE Select NP_000107.1:p.Gly240=
NM_001303465.2:c.732G>T NP_001290394.1:p.Gly244=
NM_181311.4:c.630G>T NP_851828.1:p.Gly210=
NM_181312.4:c.678G>T NP_851829.1:p.Gly226=
NM_181313.4:c.588G>T NP_851830.1:p.Gly196=
NR_024048.3:n.1041G>T