Canonical Allele Identifier: CA415185214

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648588C>A (hg19) ; chrX:g.154420249C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420249C>A , CM000685.2:g.154420249C>A	GRCh38
NC_000023.10:g.153648588C>A , CM000685.1:g.153648588C>A	GRCh37
NC_000023.9:g.153301782C>A	NCBI36
NG_009634.1:g.13712C>A
NG_009634.2:g.13715C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1494C>A
ENST00000698317.1:n.2110C>A
ENST00000698318.1:n.1893C>A
ENST00000698319.1:n.1256C>A
ENST00000698320.1:n.1144C>A
ENST00000470127.2:n.1157C>A
ENST00000475699.6:c.648C>A	ENSP00000419854.3:p.Phe216Leu
ENST00000483674.3:n.566C>A
ENST00000601016.6:c.684C>A MANE Select	ENSP00000469981.1:p.Phe228Leu
ENST00000612012.5:c.642C>A	ENSP00000482070.2:p.Phe214Leu
ENST00000612460.5:c.594C>A	ENSP00000481037.1:p.Phe198Leu
ENST00000614595.2:n.2031C>A
ENST00000615658.5:n.1273C>A
ENST00000616020.5:c.696C>A	ENSP00000483636.2:p.Phe232Leu
ENST00000617701.5:c.*697C>A	ENSP00000481645.1:n.*697C>A
ENST00000652354.1:c.366C>A	ENSP00000498734.1:p.Phe122Leu
ENST00000652358.1:c.477C>A	ENSP00000498464.1:p.Phe159Leu
ENST00000652390.1:c.603C>A	ENSP00000498858.1:p.Phe201Leu
ENST00000652476.1:n.1350C>A
ENST00000652644.1:c.297C>A	ENSP00000498496.1:p.Phe99Leu
ENST00000652682.1:c.741C>A	ENSP00000498288.1:p.Phe247Leu
ENST00000652685.1:n.1037C>A
ENST00000369776.8:c.594C>A	ENSP00000358791.4:p.Phe198Leu
ENST00000426231.5:c.681C>A
ENST00000475699.5:c.642C>A	ENSP00000419854.2:p.Phe214Leu
ENST00000494912.5:n.1373C>A
ENST00000498029.1:n.142C>A
ENST00000601016.5:c.684C>A	ENSP00000469981.1:p.Phe228Leu
ENST00000612460.4:c.594C>A	ENSP00000481037.1:p.Phe198Leu
ENST00000613002.4:c.552C>A	ENSP00000478154.1:p.Phe184Leu
ENST00000615986.4:c.*412C>A	ENSP00000480133.1:n.*412C>A
NM_000116.4:c.684C>A	NP_000107.1:p.Phe228Leu
NM_001303465.1:c.696C>A	NP_001290394.1:p.Phe232Leu
NM_181311.3:c.594C>A	NP_851828.1:p.Phe198Leu
NM_181312.3:c.642C>A	NP_851829.1:p.Phe214Leu
NM_181313.3:c.552C>A	NP_851830.1:p.Phe184Leu
NR_024048.2:n.1026C>A
XM_006724836.1:c.738C>A	XP_006724899.1:p.Phe246Leu
XM_006724837.1:c.723C>A	XP_006724900.1:p.Phe241Leu
XM_006724839.1:c.606C>A	XP_006724902.1:p.Phe202Leu
XM_006724841.2:c.477C>A	XP_006724904.1:p.Phe159Leu
XM_006724842.2:c.387C>A	XP_006724905.1:p.Phe129Leu
XM_011531189.1:c.525C>A	XP_011529491.1:p.Phe175Leu
XM_011531190.1:c.477C>A	XP_011529492.1:p.Phe159Leu
XM_011531191.1:c.408C>A	XP_011529493.1:p.Phe136Leu
XM_011531192.1:c.405C>A	XP_011529494.1:p.Phe135Leu
XR_938511.1:n.1032C>A
XM_006724841.4:c.477C>A	XP_006724904.1:p.Phe159Leu
XM_006724842.4:c.387C>A	XP_006724905.1:p.Phe129Leu
XM_011531191.2:c.408C>A	XP_011529493.1:p.Phe136Leu
XM_017029761.1:c.669C>A	XP_016885250.1:p.Phe223Leu
XM_017029762.1:c.648C>A	XP_016885251.1:p.Phe216Leu
XM_017029763.1:c.471C>A	XP_016885252.1:p.Phe157Leu
XM_017029764.1:c.405C>A	XP_016885253.1:p.Phe135Leu
XM_017029765.2:c.345C>A	XP_016885254.1:p.Phe115Leu
XM_024452431.1:c.642C>A	XP_024308199.1:p.Phe214Leu
NM_000116.5:c.684C>A MANE Select	NP_000107.1:p.Phe228Leu
NM_001303465.2:c.696C>A	NP_001290394.1:p.Phe232Leu
NM_181311.4:c.594C>A	NP_851828.1:p.Phe198Leu
NM_181312.4:c.642C>A	NP_851829.1:p.Phe214Leu
NM_181313.4:c.552C>A	NP_851830.1:p.Phe184Leu
NR_024048.3:n.1005C>A