Canonical Allele Identifier: CA337287770
Community Standard Title: NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
Gene: TAFAZZIN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154419550C>T , CM000685.2:g.154419550C>T GRCh38
NC_000023.10:g.153647889C>T , CM000685.1:g.153647889C>T GRCh37
NC_000023.9:g.153301083C>T NCBI36
NG_009634.1:g.13013C>T
NG_009634.2:g.13016C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000116.5:c.468C>T MANE Select NP_000107.1:p.Gly156=
ENST00000601016.6:c.468C>T MANE Select ENSP00000469981.1:p.Gly156=
NM_000116.4:c.468C>T NP_000107.1:p.Gly156=
NM_001303465.1:c.522C>T NP_001290394.1:p.Gly174=
NM_001303465.2:c.522C>T NP_001290394.1:p.Gly174=
NM_181311.3:c.378C>T NP_851828.1:p.Gly126=
NM_181311.4:c.378C>T NP_851828.1:p.Gly126=
NM_181312.3:c.468C>T NP_851829.1:p.Gly156=
NM_181312.4:c.468C>T NP_851829.1:p.Gly156=
NM_181313.3:c.378C>T NP_851830.1:p.Gly126=
NM_181313.4:c.378C>T NP_851830.1:p.Gly126=
NR_024048.2:n.810C>T
NR_024048.3:n.789C>T
ENST00000369776.8:c.303C>T ENSP00000358791.4:p.Gly101=
ENST00000426231.5:c.384C>T
ENST00000439735.2:c.375C>T ENSP00000398193.1:p.Gly125=
ENST00000470127.1:n.47C>T
ENST00000470127.2:n.656C>T
ENST00000475699.5:c.468C>T ENSP00000419854.2:p.Gly156=
ENST00000475699.6:c.432C>T ENSP00000419854.3:p.Gly144=
ENST00000476679.5:n.381C>T
ENST00000483674.2:n.87C>T
ENST00000483674.3:n.269C>T
ENST00000483780.5:n.152C>T
ENST00000494912.5:n.1076C>T
ENST00000601016.5:c.468C>T ENSP00000469981.1:p.Gly156=
ENST00000612012.4:c.432C>T ENSP00000482070.1:p.Gly144=
ENST00000612012.5:c.468C>T ENSP00000482070.2:p.Gly156=
ENST00000612460.4:c.378C>T ENSP00000481037.1:p.Gly126=
ENST00000612460.5:c.378C>T ENSP00000481037.1:p.Gly126=
ENST00000613002.4:c.378C>T ENSP00000478154.1:p.Gly126=
ENST00000613634.4:n.698C>T
ENST00000614595.2:n.1815C>T
ENST00000615658.4:n.791C>T
ENST00000615658.5:n.691C>T
ENST00000615986.4:c.*196C>T ENSP00000480133.1:n.*196C>T
ENST00000616020.5:c.522C>T ENSP00000483636.2:p.Gly174=
ENST00000617701.5:c.*196C>T ENSP00000481645.1:n.*196C>T
ENST00000620808.4:c.*170-482C>T ENSP00000479311.1:n.*170-482C>T
ENST00000652354.1:c.192C>T ENSP00000498734.1:p.Gly64=
ENST00000652358.1:c.261C>T ENSP00000498464.1:p.Gly87=
ENST00000652390.1:c.387C>T ENSP00000498858.1:p.Gly129=
ENST00000652476.1:n.768C>T
ENST00000652644.1:c.81C>T ENSP00000498496.1:p.Gly27=
ENST00000652682.1:c.525C>T ENSP00000498288.1:p.Gly175=
ENST00000652685.1:n.536C>T
ENST00000698234.1:n.912C>T
ENST00000698317.1:n.1528C>T
ENST00000698318.1:n.1311C>T
ENST00000698319.1:n.674C>T
ENST00000698320.1:n.562C>T
XM_006724836.1:c.522C>T XP_006724899.1:p.Gly174=
XM_006724837.1:c.432C>T XP_006724900.1:p.Gly144=
XM_006724839.1:c.432C>T XP_006724902.1:p.Gly144=
XM_006724841.2:c.261C>T XP_006724904.1:p.Gly87=
XM_006724841.4:c.261C>T XP_006724904.1:p.Gly87=
XM_006724842.2:c.171C>T XP_006724905.1:p.Gly57=
XM_006724842.4:c.171C>T XP_006724905.1:p.Gly57=
XM_011531189.1:c.425-482C>T XP_011529491.1:n.425-482C>T
XM_011531190.1:c.261C>T XP_011529492.1:p.Gly87=
XM_011531191.1:c.192C>T XP_011529493.1:p.Gly64=
XM_011531191.2:c.192C>T XP_011529493.1:p.Gly64=
XM_011531192.1:c.189C>T XP_011529494.1:p.Gly63=
XM_017029761.1:c.378C>T XP_016885250.1:p.Gly126=
XM_017029762.1:c.432C>T XP_016885251.1:p.Gly144=
XM_017029763.1:c.371-482C>T XP_016885252.1:n.371-482C>T
XM_017029764.1:c.189C>T XP_016885253.1:p.Gly63=
XM_017029765.2:c.171C>T XP_016885254.1:p.Gly57=
XM_024452431.1:c.425-482C>T XP_024308199.1:n.425-482C>T
XR_938511.1:n.735C>T