Canonical Allele Identifier: CA308801

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 202093
• ClinVar RCV Id: RCV000183908 ; RCV003512022
• dbSNP Id: rs794729167
• MyVariant Identifiers: chrX:g.153648084G>A (hg19) ; chrX:g.154419745G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419745G>A , CM000685.2:g.154419745G>A	GRCh38
NC_000023.10:g.153648084G>A , CM000685.1:g.153648084G>A	GRCh37
NC_000023.9:g.153301278G>A	NCBI36
NG_009634.1:g.13208G>A
NG_009634.2:g.13211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1107G>A
ENST00000698317.1:n.1723G>A
ENST00000698318.1:n.1506G>A
ENST00000698319.1:n.869G>A
ENST00000698320.1:n.757G>A
ENST00000470127.2:n.770G>A
ENST00000475699.6:c.546G>A	ENSP00000419854.3:p.Trp182Ter
ENST00000483674.3:n.464G>A
ENST00000601016.6:c.582G>A MANE Select	ENSP00000469981.1:p.Trp194Ter
ENST00000612012.5:c.541+122G>A	ENSP00000482070.2:n.541+122G>A
ENST00000612460.5:c.492G>A	ENSP00000481037.1:p.Trp164Ter
ENST00000614595.2:n.1929G>A
ENST00000615658.5:n.886G>A
ENST00000616020.5:c.595+122G>A	ENSP00000483636.2:n.595+122G>A
ENST00000617701.5:c.*310G>A	ENSP00000481645.1:n.*310G>A
ENST00000652354.1:c.265+122G>A	ENSP00000498734.1:n.265+122G>A
ENST00000652358.1:c.375G>A	ENSP00000498464.1:p.Trp125Ter
ENST00000652390.1:c.501G>A	ENSP00000498858.1:p.Trp167Ter
ENST00000652476.1:n.963G>A
ENST00000652644.1:c.195G>A	ENSP00000498496.1:p.Trp65Ter
ENST00000652682.1:c.639G>A	ENSP00000498288.1:p.Trp213Ter
ENST00000652685.1:n.650G>A
ENST00000369776.8:c.376+122G>A	ENSP00000358791.4:n.376+122G>A
ENST00000426231.5:c.579G>A
ENST00000439735.2:c.489G>A	ENSP00000398193.1:p.Trp163Ter
ENST00000470127.1:n.161G>A
ENST00000475699.5:c.541+122G>A	ENSP00000419854.2:n.541+122G>A
ENST00000476679.5:n.576G>A
ENST00000483780.5:n.347G>A
ENST00000494912.5:n.1271G>A
ENST00000601016.5:c.582G>A	ENSP00000469981.1:p.Trp194Ter
ENST00000612012.4:c.546G>A	ENSP00000482070.1:p.Trp182Ter
ENST00000612460.4:c.492G>A	ENSP00000481037.1:p.Trp164Ter
ENST00000613002.4:c.451+122G>A	ENSP00000478154.1:n.451+122G>A
ENST00000613634.4:n.812G>A
ENST00000615658.4:n.986G>A
ENST00000615986.4:c.*310G>A	ENSP00000480133.1:n.*310G>A
ENST00000620808.4:c.*170-287G>A	ENSP00000479311.1:n.*170-287G>A
NM_000116.4:c.582G>A	NP_000107.1:p.Trp194Ter
NM_001303465.1:c.595+122G>A	NP_001290394.1:n.595+122G>A
NM_181311.3:c.492G>A	NP_851828.1:p.Trp164Ter
NM_181312.3:c.541+122G>A	NP_851829.1:n.541+122G>A
NM_181313.3:c.451+122G>A	NP_851830.1:n.451+122G>A
NR_024048.2:n.924G>A
XM_006724836.1:c.636G>A	XP_006724899.1:p.Trp212Ter
XM_006724837.1:c.505+122G>A	XP_006724900.1:n.505+122G>A
XM_006724839.1:c.505+122G>A	XP_006724902.1:n.505+122G>A
XM_006724841.2:c.375G>A	XP_006724904.1:p.Trp125Ter
XM_006724842.2:c.285G>A	XP_006724905.1:p.Trp95Ter
XM_011531189.1:c.425-287G>A	XP_011529491.1:n.425-287G>A
XM_011531190.1:c.375G>A	XP_011529492.1:p.Trp125Ter
XM_011531191.1:c.306G>A	XP_011529493.1:p.Trp102Ter
XM_011531192.1:c.303G>A	XP_011529494.1:p.Trp101Ter
XR_938511.1:n.930G>A
XM_006724841.4:c.375G>A	XP_006724904.1:p.Trp125Ter
XM_006724842.4:c.285G>A	XP_006724905.1:p.Trp95Ter
XM_011531191.2:c.306G>A	XP_011529493.1:p.Trp102Ter
XM_017029761.1:c.451+122G>A	XP_016885250.1:n.451+122G>A
XM_017029762.1:c.546G>A	XP_016885251.1:p.Trp182Ter
XM_017029763.1:c.371-287G>A	XP_016885252.1:n.371-287G>A
XM_017029764.1:c.303G>A	XP_016885253.1:p.Trp101Ter
XM_017029765.2:c.244+122G>A	XP_016885254.1:n.244+122G>A
XM_024452431.1:c.425-287G>A	XP_024308199.1:n.425-287G>A
NM_000116.5:c.582G>A MANE Select	NP_000107.1:p.Trp194Ter
NM_001303465.2:c.595+122G>A	NP_001290394.1:n.595+122G>A
NM_181311.4:c.492G>A	NP_851828.1:p.Trp164Ter
NM_181312.4:c.541+122G>A	NP_851829.1:n.541+122G>A
NM_181313.4:c.451+122G>A	NP_851830.1:n.451+122G>A
NR_024048.3:n.903G>A