Canonical Allele Identifier: CA519278143
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153648582C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154420243C>G , CM000685.2:g.154420243C>G GRCh38
NC_000023.10:g.153648582C>G , CM000685.1:g.153648582C>G GRCh37
NC_000023.9:g.153301776C>G NCBI36
NG_009634.1:g.13706C>G
NG_009634.2:g.13709C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.1488C>G
ENST00000698317.1:n.2104C>G
ENST00000698318.1:n.1887C>G
ENST00000698319.1:n.1250C>G
ENST00000698320.1:n.1138C>G
ENST00000470127.2:n.1151C>G
ENST00000475699.6:c.642C>G ENSP00000419854.3:p.Pro214=
ENST00000483674.3:n.560C>G
ENST00000601016.6:c.678C>G MANE Select ENSP00000469981.1:p.Pro226=
ENST00000612012.5:c.636C>G ENSP00000482070.2:p.Pro212=
ENST00000612460.5:c.588C>G ENSP00000481037.1:p.Pro196=
ENST00000614595.2:n.2025C>G
ENST00000615658.5:n.1267C>G
ENST00000616020.5:c.690C>G ENSP00000483636.2:p.Pro230=
ENST00000617701.5:c.*691C>G ENSP00000481645.1:n.*691C>G
ENST00000652354.1:c.360C>G ENSP00000498734.1:p.Pro120=
ENST00000652358.1:c.471C>G ENSP00000498464.1:p.Pro157=
ENST00000652390.1:c.597C>G ENSP00000498858.1:p.Pro199=
ENST00000652476.1:n.1344C>G
ENST00000652644.1:c.291C>G ENSP00000498496.1:p.Pro97=
ENST00000652682.1:c.735C>G ENSP00000498288.1:p.Pro245=
ENST00000652685.1:n.1031C>G
ENST00000369776.8:c.588C>G ENSP00000358791.4:p.Pro196=
ENST00000426231.5:c.675C>G
ENST00000475699.5:c.636C>G ENSP00000419854.2:p.Pro212=
ENST00000494912.5:n.1367C>G
ENST00000498029.1:n.136C>G
ENST00000601016.5:c.678C>G ENSP00000469981.1:p.Pro226=
ENST00000612460.4:c.588C>G ENSP00000481037.1:p.Pro196=
ENST00000613002.4:c.546C>G ENSP00000478154.1:p.Pro182=
ENST00000615986.4:c.*406C>G ENSP00000480133.1:n.*406C>G
NM_000116.4:c.678C>G NP_000107.1:p.Pro226=
NM_001303465.1:c.690C>G NP_001290394.1:p.Pro230=
NM_181311.3:c.588C>G NP_851828.1:p.Pro196=
NM_181312.3:c.636C>G NP_851829.1:p.Pro212=
NM_181313.3:c.546C>G NP_851830.1:p.Pro182=
NR_024048.2:n.1020C>G
XM_006724836.1:c.732C>G XP_006724899.1:p.Pro244=
XM_006724837.1:c.717C>G XP_006724900.1:p.Pro239=
XM_006724839.1:c.600C>G XP_006724902.1:p.Pro200=
XM_006724841.2:c.471C>G XP_006724904.1:p.Pro157=
XM_006724842.2:c.381C>G XP_006724905.1:p.Pro127=
XM_011531189.1:c.519C>G XP_011529491.1:p.Pro173=
XM_011531190.1:c.471C>G XP_011529492.1:p.Pro157=
XM_011531191.1:c.402C>G XP_011529493.1:p.Pro134=
XM_011531192.1:c.399C>G XP_011529494.1:p.Pro133=
XR_938511.1:n.1026C>G
XM_006724841.4:c.471C>G XP_006724904.1:p.Pro157=
XM_006724842.4:c.381C>G XP_006724905.1:p.Pro127=
XM_011531191.2:c.402C>G XP_011529493.1:p.Pro134=
XM_017029761.1:c.663C>G XP_016885250.1:p.Pro221=
XM_017029762.1:c.642C>G XP_016885251.1:p.Pro214=
XM_017029763.1:c.465C>G XP_016885252.1:p.Pro155=
XM_017029764.1:c.399C>G XP_016885253.1:p.Pro133=
XM_017029765.2:c.339C>G XP_016885254.1:p.Pro113=
XM_024452431.1:c.636C>G XP_024308199.1:p.Pro212=
NM_000116.5:c.678C>G MANE Select NP_000107.1:p.Pro226=
NM_001303465.2:c.690C>G NP_001290394.1:p.Pro230=
NM_181311.4:c.588C>G NP_851828.1:p.Pro196=
NM_181312.4:c.636C>G NP_851829.1:p.Pro212=
NM_181313.4:c.546C>G NP_851830.1:p.Pro182=
NR_024048.3:n.999C>G