Canonical Allele Identifier: CA10583939
Gene: TAFAZZIN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154414191G>A , CM000685.2:g.154414191G>A GRCh38
NC_000023.10:g.153642528G>A , CM000685.1:g.153642528G>A GRCh37
NC_000023.9:g.153295722G>A NCBI36
NG_009634.1:g.7652G>A
NG_012884.2:g.2898C>T
NG_009634.2:g.7657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.904+624G>A
ENST00000698235.1:n.1068G>A
ENST00000698317.1:n.1520+1G>A
ENST00000698318.1:n.1303+624G>A
ENST00000470127.2:n.648+624G>A
ENST00000475699.6:c.424+624G>A ENSP00000419854.3:n.424+624G>A
ENST00000476800.2:n.1647G>A
ENST00000483674.3:n.261+624G>A
ENST00000601016.6:c.460+1G>A MANE Select ENSP00000469981.1:n.460+1G>A
ENST00000612012.5:c.460+1G>A ENSP00000482070.2:n.460+1G>A
ENST00000612460.5:c.370+624G>A ENSP00000481037.1:n.370+624G>A
ENST00000614595.2:n.1807+624G>A
ENST00000615658.5:n.683+624G>A
ENST00000616020.5:c.514+1G>A ENSP00000483636.2:n.514+1G>A
ENST00000617701.5:c.*188+624G>A ENSP00000481645.1:n.*188+624G>A
ENST00000621647.2:n.1276G>A
ENST00000652354.1:c.184+1G>A ENSP00000498734.1:n.184+1G>A
ENST00000652358.1:c.253+1G>A ENSP00000498464.1:n.253+1G>A
ENST00000652390.1:c.379+1G>A ENSP00000498858.1:n.379+1G>A
ENST00000652476.1:n.760+624G>A
ENST00000652644.1:c.16+624G>A ENSP00000498496.1:n.16+624G>A
ENST00000652682.1:c.460+1G>A ENSP00000498288.1:n.460+1G>A
ENST00000652685.1:n.528+624G>A
ENST00000369776.8:c.295+624G>A ENSP00000358791.4:n.295+624G>A
ENST00000426231.5:c.376+1G>A
ENST00000439735.2:c.370+624G>A ENSP00000398193.1:n.370+624G>A
ENST00000470127.1:n.39+624G>A
ENST00000475699.5:c.460+1G>A ENSP00000419854.2:n.460+1G>A
ENST00000476679.5:n.373+1G>A
ENST00000483674.2:n.79+624G>A
ENST00000483780.5:n.144+624G>A
ENST00000601016.5:c.460+1G>A ENSP00000469981.1:n.460+1G>A
ENST00000612012.4:c.424+624G>A ENSP00000482070.1:n.424+624G>A
ENST00000612460.4:c.370+624G>A ENSP00000481037.1:n.370+624G>A
ENST00000613002.4:c.370+624G>A ENSP00000478154.1:n.370+624G>A
ENST00000613634.4:n.690+624G>A
ENST00000615658.4:n.783+624G>A
ENST00000615986.4:c.*188+624G>A ENSP00000480133.1:n.*188+624G>A
ENST00000620808.4:c.*169+624G>A ENSP00000479311.1:n.*169+624G>A
NM_000116.4:c.460+1G>A NP_000107.1:n.460+1G>A
NM_001303465.1:c.514+1G>A NP_001290394.1:n.514+1G>A
NM_181311.3:c.370+624G>A NP_851828.1:n.370+624G>A
NM_181312.3:c.460+1G>A NP_851829.1:n.460+1G>A
NM_181313.3:c.370+624G>A NP_851830.1:n.370+624G>A
NR_024048.2:n.802+624G>A
XM_006724836.1:c.514+1G>A XP_006724899.1:n.514+1G>A
XM_006724837.1:c.424+624G>A XP_006724900.1:n.424+624G>A
XM_006724839.1:c.424+624G>A XP_006724902.1:n.424+624G>A
XM_006724841.2:c.253+1G>A XP_006724904.1:n.253+1G>A
XM_006724842.2:c.163+624G>A XP_006724905.1:n.163+624G>A
XM_011531189.1:c.424+624G>A XP_011529491.1:n.424+624G>A
XM_011531190.1:c.253+1G>A XP_011529492.1:n.253+1G>A
XM_011531191.1:c.184+1G>A XP_011529493.1:n.184+1G>A
XM_011531192.1:c.181+1G>A XP_011529494.1:n.181+1G>A
XR_938511.1:n.727+624G>A
XM_006724841.4:c.253+1G>A XP_006724904.1:n.253+1G>A
XM_006724842.4:c.163+624G>A XP_006724905.1:n.163+624G>A
XM_011531191.2:c.184+1G>A XP_011529493.1:n.184+1G>A
XM_017029761.1:c.370+624G>A XP_016885250.1:n.370+624G>A
XM_017029762.1:c.424+624G>A XP_016885251.1:n.424+624G>A
XM_017029763.1:c.370+624G>A XP_016885252.1:n.370+624G>A
XM_017029764.1:c.181+1G>A XP_016885253.1:n.181+1G>A
XM_017029765.2:c.163+624G>A XP_016885254.1:n.163+624G>A
XM_024452431.1:c.424+624G>A XP_024308199.1:n.424+624G>A
NM_000116.5:c.460+1G>A MANE Select NP_000107.1:n.460+1G>A
NM_001303465.2:c.514+1G>A NP_001290394.1:n.514+1G>A
NM_181311.4:c.370+624G>A NP_851828.1:n.370+624G>A
NM_181312.4:c.460+1G>A NP_851829.1:n.460+1G>A
NM_181313.4:c.370+624G>A NP_851830.1:n.370+624G>A
NR_024048.3:n.781+624G>A
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