Canonical Allele Identifier: CA415185518

Gene: TAFAZZIN

Linked Data

• COSMIC: COSM1138109
• MyVariant Identifiers: chrX:g.153649068G>T (hg19) ; chrX:g.154420729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420729G>T , CM000685.2:g.154420729G>T	GRCh38
NC_000023.10:g.153649068G>T , CM000685.1:g.153649068G>T	GRCh37
NC_000023.9:g.153302262G>T	NCBI36
NG_009634.1:g.14192G>T
NG_009634.2:g.14195G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1581G>T
ENST00000698317.1:n.2197G>T
ENST00000698318.1:n.1980G>T
ENST00000698319.1:n.1343G>T
ENST00000698320.1:n.1231G>T
ENST00000470127.2:n.1244G>T
ENST00000475699.6:c.735G>T	ENSP00000419854.3:p.Lys245Asn
ENST00000483674.3:n.653G>T
ENST00000601016.6:c.771G>T MANE Select	ENSP00000469981.1:p.Lys257Asn
ENST00000612012.5:c.729G>T	ENSP00000482070.2:p.Lys243Asn
ENST00000612460.5:c.681G>T	ENSP00000481037.1:p.Lys227Asn
ENST00000614595.2:n.2118G>T
ENST00000615658.5:n.1360G>T
ENST00000616020.5:c.783G>T	ENSP00000483636.2:p.Lys261Asn
ENST00000617701.5:c.*784G>T	ENSP00000481645.1:n.*784G>T
ENST00000651139.1:c.-13G>T	ENSP00000498957.1:n.-13G>T
ENST00000652354.1:c.453G>T	ENSP00000498734.1:p.Lys151Asn
ENST00000652358.1:c.564G>T	ENSP00000498464.1:p.Lys188Asn
ENST00000652390.1:c.690G>T	ENSP00000498858.1:p.Lys230Asn
ENST00000652476.1:n.1437G>T
ENST00000652644.1:c.384G>T	ENSP00000498496.1:p.Lys128Asn
ENST00000652682.1:c.828G>T	ENSP00000498288.1:p.Lys276Asn
ENST00000652685.1:n.1124G>T
ENST00000369776.8:c.681G>T	ENSP00000358791.4:p.Lys227Asn
ENST00000426231.5:c.768G>T
ENST00000475699.5:c.729G>T	ENSP00000419854.2:p.Lys243Asn
ENST00000494912.5:n.1460G>T
ENST00000498029.1:n.229G>T
ENST00000601016.5:c.771G>T	ENSP00000469981.1:p.Lys257Asn
ENST00000612460.4:c.681G>T	ENSP00000481037.1:p.Lys227Asn
ENST00000613002.4:c.639G>T	ENSP00000478154.1:p.Lys213Asn
ENST00000615986.4:c.*499G>T	ENSP00000480133.1:n.*499G>T
NM_000116.4:c.771G>T	NP_000107.1:p.Lys257Asn
NM_001303465.1:c.783G>T	NP_001290394.1:p.Lys261Asn
NM_181311.3:c.681G>T	NP_851828.1:p.Lys227Asn
NM_181312.3:c.729G>T	NP_851829.1:p.Lys243Asn
NM_181313.3:c.639G>T	NP_851830.1:p.Lys213Asn
NR_024048.2:n.1113G>T
XM_006724836.1:c.825G>T	XP_006724899.1:p.Lys275Asn
XM_006724837.1:c.810G>T	XP_006724900.1:p.Lys270Asn
XM_006724839.1:c.693G>T	XP_006724902.1:p.Lys231Asn
XM_006724841.2:c.564G>T	XP_006724904.1:p.Lys188Asn
XM_006724842.2:c.474G>T	XP_006724905.1:p.Lys158Asn
XM_011531189.1:c.612G>T	XP_011529491.1:p.Lys204Asn
XM_011531190.1:c.564G>T	XP_011529492.1:p.Lys188Asn
XM_011531191.1:c.495G>T	XP_011529493.1:p.Lys165Asn
XM_011531192.1:c.492G>T	XP_011529494.1:p.Lys164Asn
XR_938511.1:n.1119G>T
XM_006724841.4:c.564G>T	XP_006724904.1:p.Lys188Asn
XM_006724842.4:c.474G>T	XP_006724905.1:p.Lys158Asn
XM_011531191.2:c.495G>T	XP_011529493.1:p.Lys165Asn
XM_017029761.1:c.756G>T	XP_016885250.1:p.Lys252Asn
XM_017029762.1:c.735G>T	XP_016885251.1:p.Lys245Asn
XM_017029763.1:c.558G>T	XP_016885252.1:p.Lys186Asn
XM_017029764.1:c.492G>T	XP_016885253.1:p.Lys164Asn
XM_017029765.2:c.432G>T	XP_016885254.1:p.Lys144Asn
XM_024452431.1:c.729G>T	XP_024308199.1:p.Lys243Asn
NM_000116.5:c.771G>T MANE Select	NP_000107.1:p.Lys257Asn
NM_001303465.2:c.783G>T	NP_001290394.1:p.Lys261Asn
NM_181311.4:c.681G>T	NP_851828.1:p.Lys227Asn
NM_181312.4:c.729G>T	NP_851829.1:p.Lys243Asn
NM_181313.4:c.639G>T	NP_851830.1:p.Lys213Asn
NR_024048.3:n.1092G>T