Canonical Allele Identifier: CA415184273
Gene: TAFAZZIN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420066C>G , CM000685.2:g.154420066C>G GRCh38
NC_000023.10:g.153648405C>G , CM000685.1:g.153648405C>G GRCh37
NC_000023.9:g.153301599C>G NCBI36
NG_009634.1:g.13529C>G
NG_009634.2:g.13532C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1428C>G
ENST00000698317.1:n.2044C>G
ENST00000698318.1:n.1827C>G
ENST00000698319.1:n.1190C>G
ENST00000698320.1:n.1078C>G
ENST00000470127.2:n.1091C>G
ENST00000475699.6:c.582C>G ENSP00000419854.3:p.Asn194Lys
ENST00000483674.3:n.500C>G
ENST00000601016.6:c.618C>G MANE Select ENSP00000469981.1:p.Asn206Lys
ENST00000612012.5:c.576C>G ENSP00000482070.2:p.Asn192Lys
ENST00000612460.5:c.528C>G ENSP00000481037.1:p.Asn176Lys
ENST00000614595.2:n.1965C>G
ENST00000615658.5:n.1207C>G
ENST00000616020.5:c.630C>G ENSP00000483636.2:p.Asn210Lys
ENST00000617701.5:c.*631C>G ENSP00000481645.1:n.*631C>G
ENST00000652354.1:c.300C>G ENSP00000498734.1:p.Asn100Lys
ENST00000652358.1:c.411C>G ENSP00000498464.1:p.Asn137Lys
ENST00000652390.1:c.537C>G ENSP00000498858.1:p.Asn179Lys
ENST00000652476.1:n.1284C>G
ENST00000652644.1:c.231C>G ENSP00000498496.1:p.Asn77Lys
ENST00000652682.1:c.675C>G ENSP00000498288.1:p.Asn225Lys
ENST00000652685.1:n.971C>G
ENST00000369776.8:c.411C>G ENSP00000358791.4:p.Asn137Lys
ENST00000426231.5:c.615C>G
ENST00000439735.2:c.525C>G ENSP00000398193.1:p.Asn175Lys
ENST00000470127.1:n.197C>G
ENST00000475699.5:c.576C>G ENSP00000419854.2:p.Asn192Lys
ENST00000494912.5:n.1307C>G
ENST00000498029.1:n.76C>G
ENST00000601016.5:c.618C>G ENSP00000469981.1:p.Asn206Lys
ENST00000612012.4:c.582C>G ENSP00000482070.1:p.Asn194Lys
ENST00000612460.4:c.528C>G ENSP00000481037.1:p.Asn176Lys
ENST00000613002.4:c.486C>G ENSP00000478154.1:p.Asn162Lys
ENST00000615658.4:n.1307C>G
ENST00000615986.4:c.*346C>G ENSP00000480133.1:n.*346C>G
ENST00000620808.4:c.*204C>G ENSP00000479311.1:n.*204C>G
NM_000116.4:c.618C>G NP_000107.1:p.Asn206Lys
NM_001303465.1:c.630C>G NP_001290394.1:p.Asn210Lys
NM_181311.3:c.528C>G NP_851828.1:p.Asn176Lys
NM_181312.3:c.576C>G NP_851829.1:p.Asn192Lys
NM_181313.3:c.486C>G NP_851830.1:p.Asn162Lys
NR_024048.2:n.960C>G
XM_006724836.1:c.672C>G XP_006724899.1:p.Asn224Lys
XM_006724837.1:c.540C>G XP_006724900.1:p.Asn180Lys
XM_006724839.1:c.540C>G XP_006724902.1:p.Asn180Lys
XM_006724841.2:c.411C>G XP_006724904.1:p.Asn137Lys
XM_006724842.2:c.321C>G XP_006724905.1:p.Asn107Lys
XM_011531189.1:c.459C>G XP_011529491.1:p.Asn153Lys
XM_011531190.1:c.411C>G XP_011529492.1:p.Asn137Lys
XM_011531191.1:c.342C>G XP_011529493.1:p.Asn114Lys
XM_011531192.1:c.339C>G XP_011529494.1:p.Asn113Lys
XR_938511.1:n.966C>G
XM_006724841.4:c.411C>G XP_006724904.1:p.Asn137Lys
XM_006724842.4:c.321C>G XP_006724905.1:p.Asn107Lys
XM_011531191.2:c.342C>G XP_011529493.1:p.Asn114Lys
XM_017029761.1:c.486C>G XP_016885250.1:p.Asn162Lys
XM_017029762.1:c.582C>G XP_016885251.1:p.Asn194Lys
XM_017029763.1:c.405C>G XP_016885252.1:p.Asn135Lys
XM_017029764.1:c.339C>G XP_016885253.1:p.Asn113Lys
XM_017029765.2:c.279C>G XP_016885254.1:p.Asn93Lys
XM_024452431.1:c.459C>G XP_024308199.1:p.Asn153Lys
NM_000116.5:c.618C>G MANE Select NP_000107.1:p.Asn206Lys
NM_001303465.2:c.630C>G NP_001290394.1:p.Asn210Lys
NM_181311.4:c.528C>G NP_851828.1:p.Asn176Lys
NM_181312.4:c.576C>G NP_851829.1:p.Asn192Lys
NM_181313.4:c.486C>G NP_851830.1:p.Asn162Lys
NR_024048.3:n.939C>G