Canonical Allele Identifier: CA415185167

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648575G>T (hg19) ; chrX:g.154420236G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420236G>T , CM000685.2:g.154420236G>T	GRCh38
NC_000023.10:g.153648575G>T , CM000685.1:g.153648575G>T	GRCh37
NC_000023.9:g.153301769G>T	NCBI36
NG_009634.1:g.13699G>T
NG_009634.2:g.13702G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1481G>T
ENST00000698317.1:n.2097G>T
ENST00000698318.1:n.1880G>T
ENST00000698319.1:n.1243G>T
ENST00000698320.1:n.1131G>T
ENST00000470127.2:n.1144G>T
ENST00000475699.6:c.635G>T	ENSP00000419854.3:p.Ser212Ile
ENST00000483674.3:n.553G>T
ENST00000601016.6:c.671G>T MANE Select	ENSP00000469981.1:p.Ser224Ile
ENST00000612012.5:c.629G>T	ENSP00000482070.2:p.Ser210Ile
ENST00000612460.5:c.581G>T	ENSP00000481037.1:p.Ser194Ile
ENST00000614595.2:n.2018G>T
ENST00000615658.5:n.1260G>T
ENST00000616020.5:c.683G>T	ENSP00000483636.2:p.Ser228Ile
ENST00000617701.5:c.*684G>T	ENSP00000481645.1:n.*684G>T
ENST00000652354.1:c.353G>T	ENSP00000498734.1:p.Ser118Ile
ENST00000652358.1:c.464G>T	ENSP00000498464.1:p.Ser155Ile
ENST00000652390.1:c.590G>T	ENSP00000498858.1:p.Ser197Ile
ENST00000652476.1:n.1337G>T
ENST00000652644.1:c.284G>T	ENSP00000498496.1:p.Ser95Ile
ENST00000652682.1:c.728G>T	ENSP00000498288.1:p.Ser243Ile
ENST00000652685.1:n.1024G>T
ENST00000369776.8:c.581G>T	ENSP00000358791.4:p.Ser194Ile
ENST00000426231.5:c.668G>T
ENST00000475699.5:c.629G>T	ENSP00000419854.2:p.Ser210Ile
ENST00000494912.5:n.1360G>T
ENST00000498029.1:n.129G>T
ENST00000601016.5:c.671G>T	ENSP00000469981.1:p.Ser224Ile
ENST00000612460.4:c.581G>T	ENSP00000481037.1:p.Ser194Ile
ENST00000613002.4:c.539G>T	ENSP00000478154.1:p.Ser180Ile
ENST00000615986.4:c.*399G>T	ENSP00000480133.1:n.*399G>T
NM_000116.4:c.671G>T	NP_000107.1:p.Ser224Ile
NM_001303465.1:c.683G>T	NP_001290394.1:p.Ser228Ile
NM_181311.3:c.581G>T	NP_851828.1:p.Ser194Ile
NM_181312.3:c.629G>T	NP_851829.1:p.Ser210Ile
NM_181313.3:c.539G>T	NP_851830.1:p.Ser180Ile
NR_024048.2:n.1013G>T
XM_006724836.1:c.725G>T	XP_006724899.1:p.Ser242Ile
XM_006724837.1:c.710G>T	XP_006724900.1:p.Ser237Ile
XM_006724839.1:c.593G>T	XP_006724902.1:p.Ser198Ile
XM_006724841.2:c.464G>T	XP_006724904.1:p.Ser155Ile
XM_006724842.2:c.374G>T	XP_006724905.1:p.Ser125Ile
XM_011531189.1:c.512G>T	XP_011529491.1:p.Ser171Ile
XM_011531190.1:c.464G>T	XP_011529492.1:p.Ser155Ile
XM_011531191.1:c.395G>T	XP_011529493.1:p.Ser132Ile
XM_011531192.1:c.392G>T	XP_011529494.1:p.Ser131Ile
XR_938511.1:n.1019G>T
XM_006724841.4:c.464G>T	XP_006724904.1:p.Ser155Ile
XM_006724842.4:c.374G>T	XP_006724905.1:p.Ser125Ile
XM_011531191.2:c.395G>T	XP_011529493.1:p.Ser132Ile
XM_017029761.1:c.656G>T	XP_016885250.1:p.Ser219Ile
XM_017029762.1:c.635G>T	XP_016885251.1:p.Ser212Ile
XM_017029763.1:c.458G>T	XP_016885252.1:p.Ser153Ile
XM_017029764.1:c.392G>T	XP_016885253.1:p.Ser131Ile
XM_017029765.2:c.332G>T	XP_016885254.1:p.Ser111Ile
XM_024452431.1:c.629G>T	XP_024308199.1:p.Ser210Ile
NM_000116.5:c.671G>T MANE Select	NP_000107.1:p.Ser224Ile
NM_001303465.2:c.683G>T	NP_001290394.1:p.Ser228Ile
NM_181311.4:c.581G>T	NP_851828.1:p.Ser194Ile
NM_181312.4:c.629G>T	NP_851829.1:p.Ser210Ile
NM_181313.4:c.539G>T	NP_851830.1:p.Ser180Ile
NR_024048.3:n.992G>T