Canonical Allele Identifier: CA519278035
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153648420C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420081C>G , CM000685.2:g.154420081C>G GRCh38
NC_000023.10:g.153648420C>G , CM000685.1:g.153648420C>G GRCh37
NC_000023.9:g.153301614C>G NCBI36
NG_009634.1:g.13544C>G
NG_009634.2:g.13547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1443C>G
ENST00000698317.1:n.2059C>G
ENST00000698318.1:n.1842C>G
ENST00000698319.1:n.1205C>G
ENST00000698320.1:n.1093C>G
ENST00000470127.2:n.1106C>G
ENST00000475699.6:c.597C>G ENSP00000419854.3:p.Pro199=
ENST00000483674.3:n.515C>G
ENST00000601016.6:c.633C>G MANE Select ENSP00000469981.1:p.Pro211=
ENST00000612012.5:c.591C>G ENSP00000482070.2:p.Pro197=
ENST00000612460.5:c.543C>G ENSP00000481037.1:p.Pro181=
ENST00000614595.2:n.1980C>G
ENST00000615658.5:n.1222C>G
ENST00000616020.5:c.645C>G ENSP00000483636.2:p.Pro215=
ENST00000617701.5:c.*646C>G ENSP00000481645.1:n.*646C>G
ENST00000652354.1:c.315C>G ENSP00000498734.1:p.Pro105=
ENST00000652358.1:c.426C>G ENSP00000498464.1:p.Pro142=
ENST00000652390.1:c.552C>G ENSP00000498858.1:p.Pro184=
ENST00000652476.1:n.1299C>G
ENST00000652644.1:c.246C>G ENSP00000498496.1:p.Pro82=
ENST00000652682.1:c.690C>G ENSP00000498288.1:p.Pro230=
ENST00000652685.1:n.986C>G
ENST00000369776.8:c.426C>G ENSP00000358791.4:p.Pro142=
ENST00000426231.5:c.630C>G
ENST00000439735.2:c.540C>G ENSP00000398193.1:p.Pro180=
ENST00000470127.1:n.212C>G
ENST00000475699.5:c.591C>G ENSP00000419854.2:p.Pro197=
ENST00000494912.5:n.1322C>G
ENST00000498029.1:n.91C>G
ENST00000601016.5:c.633C>G ENSP00000469981.1:p.Pro211=
ENST00000612460.4:c.543C>G ENSP00000481037.1:p.Pro181=
ENST00000613002.4:c.501C>G ENSP00000478154.1:p.Pro167=
ENST00000615658.4:n.1322C>G
ENST00000615986.4:c.*361C>G ENSP00000480133.1:n.*361C>G
NM_000116.4:c.633C>G NP_000107.1:p.Pro211=
NM_001303465.1:c.645C>G NP_001290394.1:p.Pro215=
NM_181311.3:c.543C>G NP_851828.1:p.Pro181=
NM_181312.3:c.591C>G NP_851829.1:p.Pro197=
NM_181313.3:c.501C>G NP_851830.1:p.Pro167=
NR_024048.2:n.975C>G
XM_006724836.1:c.687C>G XP_006724899.1:p.Pro229=
XM_006724837.1:c.555C>G XP_006724900.1:p.Pro185=
XM_006724839.1:c.555C>G XP_006724902.1:p.Pro185=
XM_006724841.2:c.426C>G XP_006724904.1:p.Pro142=
XM_006724842.2:c.336C>G XP_006724905.1:p.Pro112=
XM_011531189.1:c.474C>G XP_011529491.1:p.Pro158=
XM_011531190.1:c.426C>G XP_011529492.1:p.Pro142=
XM_011531191.1:c.357C>G XP_011529493.1:p.Pro119=
XM_011531192.1:c.354C>G XP_011529494.1:p.Pro118=
XR_938511.1:n.981C>G
XM_006724841.4:c.426C>G XP_006724904.1:p.Pro142=
XM_006724842.4:c.336C>G XP_006724905.1:p.Pro112=
XM_011531191.2:c.357C>G XP_011529493.1:p.Pro119=
XM_017029761.1:c.501C>G XP_016885250.1:p.Pro167=
XM_017029762.1:c.597C>G XP_016885251.1:p.Pro199=
XM_017029763.1:c.420C>G XP_016885252.1:p.Pro140=
XM_017029764.1:c.354C>G XP_016885253.1:p.Pro118=
XM_017029765.2:c.294C>G XP_016885254.1:p.Pro98=
XM_024452431.1:c.474C>G XP_024308199.1:p.Pro158=
NM_000116.5:c.633C>G MANE Select NP_000107.1:p.Pro211=
NM_001303465.2:c.645C>G NP_001290394.1:p.Pro215=
NM_181311.4:c.543C>G NP_851828.1:p.Pro181=
NM_181312.4:c.591C>G NP_851829.1:p.Pro197=
NM_181313.4:c.501C>G NP_851830.1:p.Pro167=
NR_024048.3:n.954C>G