Canonical Allele Identifier: CA658653878

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 446166
• ClinVar RCV Id: RCV000513310
• dbSNP Id: rs1557194203
• MyVariant Identifiers: chrX:g.153648584dupA (hg19) ; chrX:g.154420245dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420245dup , CM000685.2:g.154420245dup	GRCh38
NC_000023.10:g.153648584dup , CM000685.1:g.153648584dup	GRCh37
NC_000023.9:g.153301778dup	NCBI36
NG_009634.1:g.13708dup
NG_009634.2:g.13711dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1490dup
ENST00000698317.1:n.2106dup
ENST00000698318.1:n.1889dup
ENST00000698319.1:n.1252dup
ENST00000698320.1:n.1140dup
ENST00000470127.2:n.1153dup
ENST00000475699.6:c.644dup	ENSP00000419854.3:p.Tyr215Ter
ENST00000483674.3:n.562dup
ENST00000601016.6:c.680dup MANE Select	ENSP00000469981.1:p.Tyr227Ter
ENST00000612012.5:c.638dup	ENSP00000482070.2:p.Tyr213Ter
ENST00000612460.5:c.590dup	ENSP00000481037.1:p.Tyr197Ter
ENST00000614595.2:n.2027dup
ENST00000615658.5:n.1269dup
ENST00000616020.5:c.692dup	ENSP00000483636.2:p.Tyr231Ter
ENST00000617701.5:c.*693dup	ENSP00000481645.1:n.*693dup
ENST00000652354.1:c.362dup	ENSP00000498734.1:p.Tyr121Ter
ENST00000652358.1:c.473dup	ENSP00000498464.1:p.Tyr158Ter
ENST00000652390.1:c.599dup	ENSP00000498858.1:p.Tyr200Ter
ENST00000652476.1:n.1346dup
ENST00000652644.1:c.293dup	ENSP00000498496.1:p.Tyr98Ter
ENST00000652682.1:c.737dup	ENSP00000498288.1:p.Tyr246Ter
ENST00000652685.1:n.1033dup
ENST00000369776.8:c.590dup	ENSP00000358791.4:p.Tyr197Ter
ENST00000426231.5:c.677dup
ENST00000475699.5:c.638dup	ENSP00000419854.2:p.Tyr213Ter
ENST00000494912.5:n.1369dup
ENST00000498029.1:n.138dup
ENST00000601016.5:c.680dup	ENSP00000469981.1:p.Tyr227Ter
ENST00000612460.4:c.590dup	ENSP00000481037.1:p.Tyr197Ter
ENST00000613002.4:c.548dup	ENSP00000478154.1:p.Tyr183Ter
ENST00000615986.4:c.*408dup	ENSP00000480133.1:n.*408dup
NM_000116.4:c.680dup	NP_000107.1:p.Tyr227Ter
NM_001303465.1:c.692dup	NP_001290394.1:p.Tyr231Ter
NM_181311.3:c.590dup	NP_851828.1:p.Tyr197Ter
NM_181312.3:c.638dup	NP_851829.1:p.Tyr213Ter
NM_181313.3:c.548dup	NP_851830.1:p.Tyr183Ter
NR_024048.2:n.1022dup
XM_006724836.1:c.734dup	XP_006724899.1:p.Tyr245Ter
XM_006724837.1:c.719dup	XP_006724900.1:p.Tyr240Ter
XM_006724839.1:c.602dup	XP_006724902.1:p.Tyr201Ter
XM_006724841.2:c.473dup	XP_006724904.1:p.Tyr158Ter
XM_006724842.2:c.383dup	XP_006724905.1:p.Tyr128Ter
XM_011531189.1:c.521dup	XP_011529491.1:p.Tyr174Ter
XM_011531190.1:c.473dup	XP_011529492.1:p.Tyr158Ter
XM_011531191.1:c.404dup	XP_011529493.1:p.Tyr135Ter
XM_011531192.1:c.401dup	XP_011529494.1:p.Tyr134Ter
XR_938511.1:n.1028dup
XM_006724841.4:c.473dup	XP_006724904.1:p.Tyr158Ter
XM_006724842.4:c.383dup	XP_006724905.1:p.Tyr128Ter
XM_011531191.2:c.404dup	XP_011529493.1:p.Tyr135Ter
XM_017029761.1:c.665dup	XP_016885250.1:p.Tyr222Ter
XM_017029762.1:c.644dup	XP_016885251.1:p.Tyr215Ter
XM_017029763.1:c.467dup	XP_016885252.1:p.Tyr156Ter
XM_017029764.1:c.401dup	XP_016885253.1:p.Tyr134Ter
XM_017029765.2:c.341dup	XP_016885254.1:p.Tyr114Ter
XM_024452431.1:c.638dup	XP_024308199.1:p.Tyr213Ter
NM_000116.5:c.680dup MANE Select	NP_000107.1:p.Tyr227Ter
NM_001303465.2:c.692dup	NP_001290394.1:p.Tyr231Ter
NM_181311.4:c.590dup	NP_851828.1:p.Tyr197Ter
NM_181312.4:c.638dup	NP_851829.1:p.Tyr213Ter
NM_181313.4:c.548dup	NP_851830.1:p.Tyr183Ter
NR_024048.3:n.1001dup