Canonical Allele Identifier: CA255722
Gene: TAFAZZIN HGNC NCBI

Linked Data

ClinVar Variation Id: 11112
ClinVar RCV Id: RCV000011861
dbSNP Id: rs587776741

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420211G>C , CM000685.2:g.154420211G>C GRCh38
NC_000023.10:g.153648550G>C , CM000685.1:g.153648550G>C GRCh37
NC_000023.9:g.153301744G>C NCBI36
NG_009634.1:g.13674G>C
NG_009634.2:g.13677G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000470127.2:n.1120-1G>C
ENST00000475699.6:c.611-1G>C ENSP00000419854.3:n.611-1G>C
ENST00000483674.3:n.529-1G>C
ENST00000601016.6:c.647-1G>C MANE Select ENSP00000469981.1:n.647-1G>C
ENST00000612012.5:c.605-1G>C ENSP00000482070.2:n.605-1G>C
ENST00000612460.5:c.557-1G>C ENSP00000481037.1:n.557-1G>C
ENST00000614595.2:n.1994-1G>C
ENST00000615658.5:n.1236-1G>C
ENST00000616020.5:n.659-1G>C ENSP00000483636.2:n.659-1G>C
ENST00000617701.5:c.*660-1G>C ENSP00000481645.1:n.*660-1G>C
ENST00000652354.1:c.329-1G>C ENSP00000498734.1:n.329-1G>C
ENST00000652358.1:c.440-1G>C ENSP00000498464.1:n.440-1G>C
ENST00000652390.1:n.566-1G>C ENSP00000498858.1:n.566-1G>C
ENST00000652476.1:n.1313-1G>C
ENST00000652644.1:n.260-1G>C ENSP00000498496.1:n.260-1G>C
ENST00000652682.1:c.704-1G>C ENSP00000498288.1:n.704-1G>C
ENST00000652685.1:n.1000-1G>C
ENST00000369776.8:c.556G>C ENSP00000358791.4:p.Gly186Arg
ENST00000426231.5:n.644-1G>C
ENST00000475699.5:c.605-1G>C ENSP00000419854.2:n.605-1G>C
ENST00000494912.5:n.1336-1G>C
ENST00000498029.1:n.105-1G>C
ENST00000601016.5:c.647-1G>C ENSP00000469981.1:n.647-1G>C
ENST00000612460.4:c.557-1G>C ENSP00000481037.1:n.557-1G>C
ENST00000613002.4:c.515-1G>C ENSP00000478154.1:n.515-1G>C
ENST00000615986.4:c.*375-1G>C ENSP00000480133.1:n.*375-1G>C
NM_000116.4:c.647-1G>C NP_000107.1:n.647-1G>C
NM_001303465.1:c.659-1G>C NP_001290394.1:n.659-1G>C
NM_181311.3:c.557-1G>C NP_851828.1:n.557-1G>C
NM_181312.3:c.605-1G>C NP_851829.1:n.605-1G>C
NM_181313.3:c.515-1G>C NP_851830.1:n.515-1G>C
NR_024048.2:n.989-1G>C
XM_006724836.1:c.701-1G>C XP_006724899.1:n.701-1G>C
XM_006724837.1:c.685G>C XP_006724900.1:p.Gly229Arg
XM_006724839.1:c.569-1G>C XP_006724902.1:n.569-1G>C
XM_006724841.2:c.440-1G>C XP_006724904.1:n.440-1G>C
XM_006724842.2:c.350-1G>C XP_006724905.1:n.350-1G>C
XM_011531189.1:c.488-1G>C XP_011529491.1:n.488-1G>C
XM_011531190.1:c.440-1G>C XP_011529492.1:n.440-1G>C
XM_011531191.1:c.371-1G>C XP_011529493.1:n.371-1G>C
XM_011531192.1:c.368-1G>C XP_011529494.1:n.368-1G>C
XR_938511.1:n.995-1G>C
XM_006724841.4:c.440-1G>C XP_006724904.1:n.440-1G>C
XM_006724842.4:c.350-1G>C XP_006724905.1:n.350-1G>C
XM_011531191.2:c.371-1G>C XP_011529493.1:n.371-1G>C
XM_017029761.1:c.631G>C XP_016885250.1:p.Gly211Arg
XM_017029762.1:c.611-1G>C XP_016885251.1:n.611-1G>C
XM_017029763.1:c.434-1G>C XP_016885252.1:n.434-1G>C
XM_017029764.1:c.368-1G>C XP_016885253.1:n.368-1G>C
XM_017029765.2:c.308-1G>C XP_016885254.1:n.308-1G>C
XM_024452431.1:c.604G>C XP_024308199.1:p.Gly202Arg
NM_000116.5:c.647-1G>C MANE Select NP_000107.1:n.647-1G>C
NM_001303465.2:c.659-1G>C NP_001290394.1:n.659-1G>C
NM_181311.4:c.557-1G>C NP_851828.1:n.557-1G>C
NM_181312.4:c.605-1G>C NP_851829.1:n.605-1G>C
NM_181313.4:c.515-1G>C NP_851830.1:n.515-1G>C
NR_024048.3:n.968-1G>C