Canonical Allele Identifier: CA2466677703
Gene: TAFAZZIN HGNC NCBI

Linked Data

dbSNP Id: rs1569552945

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420448G>C , CM000685.2:g.154420448G>C GRCh38
NC_000023.10:g.153648787G>C , CM000685.1:g.153648787G>C GRCh37
NC_000023.9:g.153301981G>C NCBI36
NG_009634.1:g.13911G>C
NG_009634.2:g.13914G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1509+184G>C
ENST00000698317.1:n.2125+184G>C
ENST00000698318.1:n.1908+184G>C
ENST00000698319.1:n.1271+184G>C
ENST00000698320.1:n.1159+184G>C
ENST00000470127.2:n.1172+184G>C
ENST00000475699.6:c.663+184G>C ENSP00000419854.3:n.663+184G>C
ENST00000483674.3:n.581+184G>C
ENST00000601016.6:c.699+184G>C MANE Select ENSP00000469981.1:n.699+184G>C
ENST00000612012.5:c.657+184G>C ENSP00000482070.2:n.657+184G>C
ENST00000612460.5:c.609+184G>C ENSP00000481037.1:n.609+184G>C
ENST00000614595.2:n.2046+184G>C
ENST00000615658.5:n.1288+184G>C
ENST00000616020.5:c.711+184G>C ENSP00000483636.2:n.711+184G>C
ENST00000617701.5:c.*712+184G>C ENSP00000481645.1:n.*712+184G>C
ENST00000651139.1:c.-96G>C ENSP00000498957.1:n.-96G>C
ENST00000652354.1:c.381+184G>C ENSP00000498734.1:n.381+184G>C
ENST00000652358.1:c.492+184G>C ENSP00000498464.1:n.492+184G>C
ENST00000652390.1:c.618+184G>C ENSP00000498858.1:n.618+184G>C
ENST00000652476.1:n.1365+184G>C
ENST00000652644.1:c.312+184G>C ENSP00000498496.1:n.312+184G>C
ENST00000652682.1:c.756+184G>C ENSP00000498288.1:n.756+184G>C
ENST00000652685.1:n.1052+184G>C
ENST00000369776.8:c.609+184G>C ENSP00000358791.4:n.609+184G>C
ENST00000426231.5:c.696+184G>C
ENST00000475699.5:c.657+184G>C ENSP00000419854.2:n.657+184G>C
ENST00000494912.5:n.1388+184G>C
ENST00000498029.1:n.157+184G>C
ENST00000601016.5:c.699+184G>C ENSP00000469981.1:n.699+184G>C
ENST00000612460.4:c.609+184G>C ENSP00000481037.1:n.609+184G>C
ENST00000613002.4:c.567+184G>C ENSP00000478154.1:n.567+184G>C
ENST00000615986.4:c.*427+184G>C ENSP00000480133.1:n.*427+184G>C
NM_000116.4:c.699+184G>C NP_000107.1:n.699+184G>C
NM_001303465.1:c.711+184G>C NP_001290394.1:n.711+184G>C
NM_181311.3:c.609+184G>C NP_851828.1:n.609+184G>C
NM_181312.3:c.657+184G>C NP_851829.1:n.657+184G>C
NM_181313.3:c.567+184G>C NP_851830.1:n.567+184G>C
NR_024048.2:n.1041+184G>C
XM_006724836.1:c.753+184G>C XP_006724899.1:n.753+184G>C
XM_006724837.1:c.738+184G>C XP_006724900.1:n.738+184G>C
XM_006724839.1:c.621+184G>C XP_006724902.1:n.621+184G>C
XM_006724841.2:c.492+184G>C XP_006724904.1:n.492+184G>C
XM_006724842.2:c.402+184G>C XP_006724905.1:n.402+184G>C
XM_011531189.1:c.540+184G>C XP_011529491.1:n.540+184G>C
XM_011531190.1:c.492+184G>C XP_011529492.1:n.492+184G>C
XM_011531191.1:c.423+184G>C XP_011529493.1:n.423+184G>C
XM_011531192.1:c.420+184G>C XP_011529494.1:n.420+184G>C
XR_938511.1:n.1047+184G>C
XM_006724841.4:c.492+184G>C XP_006724904.1:n.492+184G>C
XM_006724842.4:c.402+184G>C XP_006724905.1:n.402+184G>C
XM_011531191.2:c.423+184G>C XP_011529493.1:n.423+184G>C
XM_017029761.1:c.684+184G>C XP_016885250.1:n.684+184G>C
XM_017029762.1:c.663+184G>C XP_016885251.1:n.663+184G>C
XM_017029763.1:c.486+184G>C XP_016885252.1:n.486+184G>C
XM_017029764.1:c.420+184G>C XP_016885253.1:n.420+184G>C
XM_017029765.2:c.360+184G>C XP_016885254.1:n.360+184G>C
XM_024452431.1:c.657+184G>C XP_024308199.1:n.657+184G>C
NM_000116.5:c.699+184G>C MANE Select NP_000107.1:n.699+184G>C
NM_001303465.2:c.711+184G>C NP_001290394.1:n.711+184G>C
NM_181311.4:c.609+184G>C NP_851828.1:n.609+184G>C
NM_181312.4:c.657+184G>C NP_851829.1:n.657+184G>C
NM_181313.4:c.567+184G>C NP_851830.1:n.567+184G>C
NR_024048.3:n.1020+184G>C