Canonical Allele Identifier: CA519277450
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153640526C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154412189C>G , CM000685.2:g.154412189C>G GRCh38
NC_000023.10:g.153640526C>G , CM000685.1:g.153640526C>G GRCh37
NC_000023.9:g.153293720C>G NCBI36
NG_009634.1:g.5650C>G
NG_012884.2:g.4900G>C
NG_009634.2:g.5655C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698234.1:n.641C>G
ENST00000698235.1:n.200C>G
ENST00000698317.1:n.175C>G
ENST00000698318.1:n.36C>G
ENST00000475699.6:c.267C>G ENSP00000419854.3:p.Ser89=
ENST00000476800.2:n.178C>G
ENST00000483674.3:n.104C>G
ENST00000601016.6:c.213C>G MANE Select ENSP00000469981.1:p.Ser71=
ENST00000612012.5:c.213C>G ENSP00000482070.2:p.Ser71=
ENST00000612460.5:c.213C>G ENSP00000481037.1:p.Ser71=
ENST00000614595.2:n.571C>G
ENST00000615658.5:n.526C>G
ENST00000616020.5:c.267C>G ENSP00000483636.2:p.Ser89=
ENST00000617701.5:c.213C>G ENSP00000481645.1:p.Ser71=
ENST00000621647.2:n.266C>G
ENST00000652358.1:c.-57+237C>G ENSP00000498464.1:n.-57+237C>G
ENST00000652390.1:c.132C>G ENSP00000498858.1:p.Ser44=
ENST00000652476.1:n.374C>G
ENST00000652682.1:c.213C>G ENSP00000498288.1:p.Ser71=
ENST00000652685.1:n.265C>G
ENST00000369776.8:c.163+183C>G ENSP00000358791.4:n.163+183C>G
ENST00000426231.5:c.29C>G
ENST00000439735.2:c.213C>G ENSP00000398193.1:p.Ser71=
ENST00000475699.5:c.213C>G ENSP00000419854.2:p.Ser71=
ENST00000601016.5:c.213C>G ENSP00000469981.1:p.Ser71=
ENST00000612012.4:c.267C>G ENSP00000482070.1:p.Ser89=
ENST00000612460.4:c.213C>G ENSP00000481037.1:p.Ser71=
ENST00000613002.4:c.213C>G ENSP00000478154.1:p.Ser71=
ENST00000613634.4:n.533C>G
ENST00000614595.1:n.432C>G
ENST00000615658.4:n.539C>G
ENST00000615986.4:c.213C>G ENSP00000480133.1:p.Ser71=
ENST00000616020.4:c.267C>G ENSP00000483636.1:p.Ser89=
ENST00000617701.4:c.213C>G ENSP00000481645.1:p.Ser71=
ENST00000620808.4:c.213C>G ENSP00000479311.1:p.Ser71=
ENST00000621647.1:n.498C>G
NM_000116.4:c.213C>G NP_000107.1:p.Ser71=
NM_001303465.1:c.267C>G NP_001290394.1:p.Ser89=
NM_181311.3:c.213C>G NP_851828.1:p.Ser71=
NM_181312.3:c.213C>G NP_851829.1:p.Ser71=
NM_181313.3:c.213C>G NP_851830.1:p.Ser71=
NR_024048.2:n.539C>G
XM_006724836.1:c.267C>G XP_006724899.1:p.Ser89=
XM_006724837.1:c.267C>G XP_006724900.1:p.Ser89=
XM_006724839.1:c.267C>G XP_006724902.1:p.Ser89=
XM_006724841.2:c.-82C>G XP_006724904.1:n.-82C>G
XM_006724842.2:c.-82C>G XP_006724905.1:n.-82C>G
XM_011531189.1:c.267C>G XP_011529491.1:p.Ser89=
XR_938511.1:n.570C>G
XM_006724841.4:c.-82C>G XP_006724904.1:n.-82C>G
XM_006724842.4:c.-82C>G XP_006724905.1:n.-82C>G
XM_017029761.1:c.213C>G XP_016885250.1:p.Ser71=
XM_017029762.1:c.267C>G XP_016885251.1:p.Ser89=
XM_017029763.1:c.213C>G XP_016885252.1:p.Ser71=
XM_017029765.2:c.-82C>G XP_016885254.1:n.-82C>G
XM_024452431.1:c.267C>G XP_024308199.1:p.Ser89=
NM_000116.5:c.213C>G MANE Select NP_000107.1:p.Ser71=
NM_001303465.2:c.267C>G NP_001290394.1:p.Ser89=
NM_181311.4:c.213C>G NP_851828.1:p.Ser71=
NM_181312.4:c.213C>G NP_851829.1:p.Ser71=
NM_181313.4:c.213C>G NP_851830.1:p.Ser71=
NR_024048.3:n.518C>G