Canonical Allele Identifier: CA415180211

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 950993
• ClinVar RCV Id: RCV001222821
• dbSNP Id: rs878853654
• MyVariant Identifiers: chrX:g.153640540C>T (hg19) ; chrX:g.154412203C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412203C>T , CM000685.2:g.154412203C>T	GRCh38
NC_000023.10:g.153640540C>T , CM000685.1:g.153640540C>T	GRCh37
NC_000023.9:g.153293734C>T	NCBI36
NG_009634.1:g.5664C>T
NG_012884.2:g.4886G>A
NG_009634.2:g.5669C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.655C>T
ENST00000698235.1:n.214C>T
ENST00000698317.1:n.189C>T
ENST00000698318.1:n.50C>T
ENST00000475699.6:c.281C>T	ENSP00000419854.3:p.Pro94Leu
ENST00000476800.2:n.192C>T
ENST00000483674.3:n.118C>T
ENST00000601016.6:c.227C>T MANE Select	ENSP00000469981.1:p.Pro76Leu
ENST00000612012.5:c.227C>T	ENSP00000482070.2:p.Pro76Leu
ENST00000612460.5:c.227C>T	ENSP00000481037.1:p.Pro76Leu
ENST00000614595.2:n.585C>T
ENST00000615658.5:n.540C>T
ENST00000616020.5:c.281C>T	ENSP00000483636.2:p.Pro94Leu
ENST00000617701.5:c.227C>T	ENSP00000481645.1:p.Pro76Leu
ENST00000621647.2:n.280C>T
ENST00000652358.1:c.-57+251C>T	ENSP00000498464.1:n.-57+251C>T
ENST00000652390.1:c.146C>T	ENSP00000498858.1:p.Pro49Leu
ENST00000652476.1:n.388C>T
ENST00000652682.1:c.227C>T	ENSP00000498288.1:p.Pro76Leu
ENST00000652685.1:n.279C>T
ENST00000369776.8:c.163+197C>T	ENSP00000358791.4:n.163+197C>T
ENST00000426231.5:c.43C>T
ENST00000439735.2:c.227C>T	ENSP00000398193.1:p.Pro76Leu
ENST00000475699.5:c.227C>T	ENSP00000419854.2:p.Pro76Leu
ENST00000483780.5:n.1C>T
ENST00000601016.5:c.227C>T	ENSP00000469981.1:p.Pro76Leu
ENST00000612012.4:c.281C>T	ENSP00000482070.1:p.Pro94Leu
ENST00000612460.4:c.227C>T	ENSP00000481037.1:p.Pro76Leu
ENST00000613002.4:c.227C>T	ENSP00000478154.1:p.Pro76Leu
ENST00000613634.4:n.547C>T
ENST00000614595.1:n.446C>T
ENST00000615658.4:n.553C>T
ENST00000615986.4:c.227C>T	ENSP00000480133.1:p.Pro76Leu
ENST00000616020.4:c.281C>T	ENSP00000483636.1:p.Pro94Leu
ENST00000617701.4:c.227C>T	ENSP00000481645.1:p.Pro76Leu
ENST00000620808.4:c.227C>T	ENSP00000479311.1:p.Pro76Leu
ENST00000621647.1:n.512C>T
NM_000116.4:c.227C>T	NP_000107.1:p.Pro76Leu
NM_001303465.1:c.281C>T	NP_001290394.1:p.Pro94Leu
NM_181311.3:c.227C>T	NP_851828.1:p.Pro76Leu
NM_181312.3:c.227C>T	NP_851829.1:p.Pro76Leu
NM_181313.3:c.227C>T	NP_851830.1:p.Pro76Leu
NR_024048.2:n.553C>T
XM_006724836.1:c.281C>T	XP_006724899.1:p.Pro94Leu
XM_006724837.1:c.281C>T	XP_006724900.1:p.Pro94Leu
XM_006724839.1:c.281C>T	XP_006724902.1:p.Pro94Leu
XM_006724841.2:c.-68C>T	XP_006724904.1:n.-68C>T
XM_006724842.2:c.-68C>T	XP_006724905.1:n.-68C>T
XM_011531189.1:c.281C>T	XP_011529491.1:p.Pro94Leu
XR_938511.1:n.584C>T
XM_006724841.4:c.-68C>T	XP_006724904.1:n.-68C>T
XM_006724842.4:c.-68C>T	XP_006724905.1:n.-68C>T
XM_017029761.1:c.227C>T	XP_016885250.1:p.Pro76Leu
XM_017029762.1:c.281C>T	XP_016885251.1:p.Pro94Leu
XM_017029763.1:c.227C>T	XP_016885252.1:p.Pro76Leu
XM_017029765.2:c.-68C>T	XP_016885254.1:n.-68C>T
XM_024452431.1:c.281C>T	XP_024308199.1:p.Pro94Leu
NM_000116.5:c.227C>T MANE Select	NP_000107.1:p.Pro76Leu
NM_001303465.2:c.281C>T	NP_001290394.1:p.Pro94Leu
NM_181311.4:c.227C>T	NP_851828.1:p.Pro76Leu
NM_181312.4:c.227C>T	NP_851829.1:p.Pro76Leu
NM_181313.4:c.227C>T	NP_851830.1:p.Pro76Leu
NR_024048.3:n.532C>T