Canonical Allele Identifier: CA415185090

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648557A>T (hg19) ; chrX:g.154420218A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420218A>T , CM000685.2:g.154420218A>T	GRCh38
NC_000023.10:g.153648557A>T , CM000685.1:g.153648557A>T	GRCh37
NC_000023.9:g.153301751A>T	NCBI36
NG_009634.1:g.13681A>T
NG_009634.2:g.13684A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1463A>T
ENST00000698317.1:n.2079A>T
ENST00000698318.1:n.1862A>T
ENST00000698319.1:n.1225A>T
ENST00000698320.1:n.1113A>T
ENST00000470127.2:n.1126A>T
ENST00000475699.6:c.617A>T	ENSP00000419854.3:p.Asn206Ile
ENST00000483674.3:n.535A>T
ENST00000601016.6:c.653A>T MANE Select	ENSP00000469981.1:p.Asn218Ile
ENST00000612012.5:c.611A>T	ENSP00000482070.2:p.Asn204Ile
ENST00000612460.5:c.563A>T	ENSP00000481037.1:p.Asn188Ile
ENST00000614595.2:n.2000A>T
ENST00000615658.5:n.1242A>T
ENST00000616020.5:c.665A>T	ENSP00000483636.2:p.Asn222Ile
ENST00000617701.5:c.*666A>T	ENSP00000481645.1:n.*666A>T
ENST00000652354.1:c.335A>T	ENSP00000498734.1:p.Asn112Ile
ENST00000652358.1:c.446A>T	ENSP00000498464.1:p.Asn149Ile
ENST00000652390.1:c.572A>T	ENSP00000498858.1:p.Asn191Ile
ENST00000652476.1:n.1319A>T
ENST00000652644.1:c.266A>T	ENSP00000498496.1:p.Asn89Ile
ENST00000652682.1:c.710A>T	ENSP00000498288.1:p.Asn237Ile
ENST00000652685.1:n.1006A>T
ENST00000369776.8:c.563A>T	ENSP00000358791.4:p.Asn188Ile
ENST00000426231.5:c.650A>T
ENST00000475699.5:c.611A>T	ENSP00000419854.2:p.Asn204Ile
ENST00000494912.5:n.1342A>T
ENST00000498029.1:n.111A>T
ENST00000601016.5:c.653A>T	ENSP00000469981.1:p.Asn218Ile
ENST00000612460.4:c.563A>T	ENSP00000481037.1:p.Asn188Ile
ENST00000613002.4:c.521A>T	ENSP00000478154.1:p.Asn174Ile
ENST00000615986.4:c.*381A>T	ENSP00000480133.1:n.*381A>T
NM_000116.4:c.653A>T	NP_000107.1:p.Asn218Ile
NM_001303465.1:c.665A>T	NP_001290394.1:p.Asn222Ile
NM_181311.3:c.563A>T	NP_851828.1:p.Asn188Ile
NM_181312.3:c.611A>T	NP_851829.1:p.Asn204Ile
NM_181313.3:c.521A>T	NP_851830.1:p.Asn174Ile
NR_024048.2:n.995A>T
XM_006724836.1:c.707A>T	XP_006724899.1:p.Asn236Ile
XM_006724837.1:c.692A>T	XP_006724900.1:p.Asn231Ile
XM_006724839.1:c.575A>T	XP_006724902.1:p.Asn192Ile
XM_006724841.2:c.446A>T	XP_006724904.1:p.Asn149Ile
XM_006724842.2:c.356A>T	XP_006724905.1:p.Asn119Ile
XM_011531189.1:c.494A>T	XP_011529491.1:p.Asn165Ile
XM_011531190.1:c.446A>T	XP_011529492.1:p.Asn149Ile
XM_011531191.1:c.377A>T	XP_011529493.1:p.Asn126Ile
XM_011531192.1:c.374A>T	XP_011529494.1:p.Asn125Ile
XR_938511.1:n.1001A>T
XM_006724841.4:c.446A>T	XP_006724904.1:p.Asn149Ile
XM_006724842.4:c.356A>T	XP_006724905.1:p.Asn119Ile
XM_011531191.2:c.377A>T	XP_011529493.1:p.Asn126Ile
XM_017029761.1:c.638A>T	XP_016885250.1:p.Asn213Ile
XM_017029762.1:c.617A>T	XP_016885251.1:p.Asn206Ile
XM_017029763.1:c.440A>T	XP_016885252.1:p.Asn147Ile
XM_017029764.1:c.374A>T	XP_016885253.1:p.Asn125Ile
XM_017029765.2:c.314A>T	XP_016885254.1:p.Asn105Ile
XM_024452431.1:c.611A>T	XP_024308199.1:p.Asn204Ile
NM_000116.5:c.653A>T MANE Select	NP_000107.1:p.Asn218Ile
NM_001303465.2:c.665A>T	NP_001290394.1:p.Asn222Ile
NM_181311.4:c.563A>T	NP_851828.1:p.Asn188Ile
NM_181312.4:c.611A>T	NP_851829.1:p.Asn204Ile
NM_181313.4:c.521A>T	NP_851830.1:p.Asn174Ile
NR_024048.3:n.974A>T