Canonical Allele Identifier: CA415184327

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506895
• ClinVar RCV Id: RCV003237264
• MyVariant Identifiers: chrX:g.153648413T>A (hg19) ; chrX:g.154420074T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420074T>A , CM000685.2:g.154420074T>A	GRCh38
NC_000023.10:g.153648413T>A , CM000685.1:g.153648413T>A	GRCh37
NC_000023.9:g.153301607T>A	NCBI36
NG_009634.1:g.13537T>A
NG_009634.2:g.13540T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1436T>A
ENST00000698317.1:n.2052T>A
ENST00000698318.1:n.1835T>A
ENST00000698319.1:n.1198T>A
ENST00000698320.1:n.1086T>A
ENST00000470127.2:n.1099T>A
ENST00000475699.6:c.590T>A	ENSP00000419854.3:p.Ile197Asn
ENST00000483674.3:n.508T>A
ENST00000601016.6:c.626T>A MANE Select	ENSP00000469981.1:p.Ile209Asn
ENST00000612012.5:c.584T>A	ENSP00000482070.2:p.Ile195Asn
ENST00000612460.5:c.536T>A	ENSP00000481037.1:p.Ile179Asn
ENST00000614595.2:n.1973T>A
ENST00000615658.5:n.1215T>A
ENST00000616020.5:c.638T>A	ENSP00000483636.2:p.Ile213Asn
ENST00000617701.5:c.*639T>A	ENSP00000481645.1:n.*639T>A
ENST00000652354.1:c.308T>A	ENSP00000498734.1:p.Ile103Asn
ENST00000652358.1:c.419T>A	ENSP00000498464.1:p.Ile140Asn
ENST00000652390.1:c.545T>A	ENSP00000498858.1:p.Ile182Asn
ENST00000652476.1:n.1292T>A
ENST00000652644.1:c.239T>A	ENSP00000498496.1:p.Ile80Asn
ENST00000652682.1:c.683T>A	ENSP00000498288.1:p.Ile228Asn
ENST00000652685.1:n.979T>A
ENST00000369776.8:c.419T>A	ENSP00000358791.4:p.Ile140Asn
ENST00000426231.5:c.623T>A
ENST00000439735.2:c.533T>A	ENSP00000398193.1:p.Ile178Asn
ENST00000470127.1:n.205T>A
ENST00000475699.5:c.584T>A	ENSP00000419854.2:p.Ile195Asn
ENST00000494912.5:n.1315T>A
ENST00000498029.1:n.84T>A
ENST00000601016.5:c.626T>A	ENSP00000469981.1:p.Ile209Asn
ENST00000612460.4:c.536T>A	ENSP00000481037.1:p.Ile179Asn
ENST00000613002.4:c.494T>A	ENSP00000478154.1:p.Ile165Asn
ENST00000615658.4:n.1315T>A
ENST00000615986.4:c.*354T>A	ENSP00000480133.1:n.*354T>A
ENST00000620808.4:c.*212T>A	ENSP00000479311.1:n.*212T>A
NM_000116.4:c.626T>A	NP_000107.1:p.Ile209Asn
NM_001303465.1:c.638T>A	NP_001290394.1:p.Ile213Asn
NM_181311.3:c.536T>A	NP_851828.1:p.Ile179Asn
NM_181312.3:c.584T>A	NP_851829.1:p.Ile195Asn
NM_181313.3:c.494T>A	NP_851830.1:p.Ile165Asn
NR_024048.2:n.968T>A
XM_006724836.1:c.680T>A	XP_006724899.1:p.Ile227Asn
XM_006724837.1:c.548T>A	XP_006724900.1:p.Ile183Asn
XM_006724839.1:c.548T>A	XP_006724902.1:p.Ile183Asn
XM_006724841.2:c.419T>A	XP_006724904.1:p.Ile140Asn
XM_006724842.2:c.329T>A	XP_006724905.1:p.Ile110Asn
XM_011531189.1:c.467T>A	XP_011529491.1:p.Ile156Asn
XM_011531190.1:c.419T>A	XP_011529492.1:p.Ile140Asn
XM_011531191.1:c.350T>A	XP_011529493.1:p.Ile117Asn
XM_011531192.1:c.347T>A	XP_011529494.1:p.Ile116Asn
XR_938511.1:n.974T>A
XM_006724841.4:c.419T>A	XP_006724904.1:p.Ile140Asn
XM_006724842.4:c.329T>A	XP_006724905.1:p.Ile110Asn
XM_011531191.2:c.350T>A	XP_011529493.1:p.Ile117Asn
XM_017029761.1:c.494T>A	XP_016885250.1:p.Ile165Asn
XM_017029762.1:c.590T>A	XP_016885251.1:p.Ile197Asn
XM_017029763.1:c.413T>A	XP_016885252.1:p.Ile138Asn
XM_017029764.1:c.347T>A	XP_016885253.1:p.Ile116Asn
XM_017029765.2:c.287T>A	XP_016885254.1:p.Ile96Asn
XM_024452431.1:c.467T>A	XP_024308199.1:p.Ile156Asn
NM_000116.5:c.626T>A MANE Select	NP_000107.1:p.Ile209Asn
NM_001303465.2:c.638T>A	NP_001290394.1:p.Ile213Asn
NM_181311.4:c.536T>A	NP_851828.1:p.Ile179Asn
NM_181312.4:c.584T>A	NP_851829.1:p.Ile195Asn
NM_181313.4:c.494T>A	NP_851830.1:p.Ile165Asn
NR_024048.3:n.947T>A