Canonical Allele Identifier: CA519277456

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154412204-T-C
• MyVariant Identifiers: chrX:g.153640541T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412204T>C , CM000685.2:g.154412204T>C	GRCh38
NC_000023.10:g.153640541T>C , CM000685.1:g.153640541T>C	GRCh37
NC_000023.9:g.153293735T>C	NCBI36
NG_009634.1:g.5665T>C
NG_012884.2:g.4885A>G
NG_009634.2:g.5670T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.656T>C
ENST00000698235.1:n.215T>C
ENST00000698317.1:n.190T>C
ENST00000698318.1:n.51T>C
ENST00000475699.6:c.282T>C	ENSP00000419854.3:p.Pro94=
ENST00000476800.2:n.193T>C
ENST00000483674.3:n.119T>C
ENST00000601016.6:c.228T>C MANE Select	ENSP00000469981.1:p.Pro76=
ENST00000612012.5:c.228T>C	ENSP00000482070.2:p.Pro76=
ENST00000612460.5:c.228T>C	ENSP00000481037.1:p.Pro76=
ENST00000614595.2:n.586T>C
ENST00000615658.5:n.541T>C
ENST00000616020.5:c.282T>C	ENSP00000483636.2:p.Pro94=
ENST00000617701.5:c.228T>C	ENSP00000481645.1:p.Pro76=
ENST00000621647.2:n.281T>C
ENST00000652358.1:c.-57+252T>C	ENSP00000498464.1:n.-57+252T>C
ENST00000652390.1:c.147T>C	ENSP00000498858.1:p.Pro49=
ENST00000652476.1:n.389T>C
ENST00000652682.1:c.228T>C	ENSP00000498288.1:p.Pro76=
ENST00000652685.1:n.280T>C
ENST00000369776.8:c.163+198T>C	ENSP00000358791.4:n.163+198T>C
ENST00000426231.5:c.44T>C
ENST00000439735.2:c.228T>C	ENSP00000398193.1:p.Pro76=
ENST00000475699.5:c.228T>C	ENSP00000419854.2:p.Pro76=
ENST00000483780.5:n.2T>C
ENST00000601016.5:c.228T>C	ENSP00000469981.1:p.Pro76=
ENST00000612012.4:c.282T>C	ENSP00000482070.1:p.Pro94=
ENST00000612460.4:c.228T>C	ENSP00000481037.1:p.Pro76=
ENST00000613002.4:c.228T>C	ENSP00000478154.1:p.Pro76=
ENST00000613634.4:n.548T>C
ENST00000614595.1:n.447T>C
ENST00000615658.4:n.554T>C
ENST00000615986.4:c.228T>C	ENSP00000480133.1:p.Pro76=
ENST00000616020.4:c.282T>C	ENSP00000483636.1:p.Pro94=
ENST00000617701.4:c.228T>C	ENSP00000481645.1:p.Pro76=
ENST00000620808.4:c.228T>C	ENSP00000479311.1:p.Pro76=
ENST00000621647.1:n.513T>C
NM_000116.4:c.228T>C	NP_000107.1:p.Pro76=
NM_001303465.1:c.282T>C	NP_001290394.1:p.Pro94=
NM_181311.3:c.228T>C	NP_851828.1:p.Pro76=
NM_181312.3:c.228T>C	NP_851829.1:p.Pro76=
NM_181313.3:c.228T>C	NP_851830.1:p.Pro76=
NR_024048.2:n.554T>C
XM_006724836.1:c.282T>C	XP_006724899.1:p.Pro94=
XM_006724837.1:c.282T>C	XP_006724900.1:p.Pro94=
XM_006724839.1:c.282T>C	XP_006724902.1:p.Pro94=
XM_006724841.2:c.-67T>C	XP_006724904.1:n.-67T>C
XM_006724842.2:c.-67T>C	XP_006724905.1:n.-67T>C
XM_011531189.1:c.282T>C	XP_011529491.1:p.Pro94=
XR_938511.1:n.585T>C
XM_006724841.4:c.-67T>C	XP_006724904.1:n.-67T>C
XM_006724842.4:c.-67T>C	XP_006724905.1:n.-67T>C
XM_017029761.1:c.228T>C	XP_016885250.1:p.Pro76=
XM_017029762.1:c.282T>C	XP_016885251.1:p.Pro94=
XM_017029763.1:c.228T>C	XP_016885252.1:p.Pro76=
XM_017029765.2:c.-67T>C	XP_016885254.1:n.-67T>C
XM_024452431.1:c.282T>C	XP_024308199.1:p.Pro94=
NM_000116.5:c.228T>C MANE Select	NP_000107.1:p.Pro76=
NM_001303465.2:c.282T>C	NP_001290394.1:p.Pro94=
NM_181311.4:c.228T>C	NP_851828.1:p.Pro76=
NM_181312.4:c.228T>C	NP_851829.1:p.Pro76=
NM_181313.4:c.228T>C	NP_851830.1:p.Pro76=
NR_024048.3:n.533T>C