Canonical Allele Identifier: CA415185141

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648569C>T (hg19) ; chrX:g.154420230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420230C>T , CM000685.2:g.154420230C>T	GRCh38
NC_000023.10:g.153648569C>T , CM000685.1:g.153648569C>T	GRCh37
NC_000023.9:g.153301763C>T	NCBI36
NG_009634.1:g.13693C>T
NG_009634.2:g.13696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1475C>T
ENST00000698317.1:n.2091C>T
ENST00000698318.1:n.1874C>T
ENST00000698319.1:n.1237C>T
ENST00000698320.1:n.1125C>T
ENST00000470127.2:n.1138C>T
ENST00000475699.6:c.629C>T	ENSP00000419854.3:p.Pro210Leu
ENST00000483674.3:n.547C>T
ENST00000601016.6:c.665C>T MANE Select	ENSP00000469981.1:p.Pro222Leu
ENST00000612012.5:c.623C>T	ENSP00000482070.2:p.Pro208Leu
ENST00000612460.5:c.575C>T	ENSP00000481037.1:p.Pro192Leu
ENST00000614595.2:n.2012C>T
ENST00000615658.5:n.1254C>T
ENST00000616020.5:c.677C>T	ENSP00000483636.2:p.Pro226Leu
ENST00000617701.5:c.*678C>T	ENSP00000481645.1:n.*678C>T
ENST00000652354.1:c.347C>T	ENSP00000498734.1:p.Pro116Leu
ENST00000652358.1:c.458C>T	ENSP00000498464.1:p.Pro153Leu
ENST00000652390.1:c.584C>T	ENSP00000498858.1:p.Pro195Leu
ENST00000652476.1:n.1331C>T
ENST00000652644.1:c.278C>T	ENSP00000498496.1:p.Pro93Leu
ENST00000652682.1:c.722C>T	ENSP00000498288.1:p.Pro241Leu
ENST00000652685.1:n.1018C>T
ENST00000369776.8:c.575C>T	ENSP00000358791.4:p.Pro192Leu
ENST00000426231.5:c.662C>T
ENST00000475699.5:c.623C>T	ENSP00000419854.2:p.Pro208Leu
ENST00000494912.5:n.1354C>T
ENST00000498029.1:n.123C>T
ENST00000601016.5:c.665C>T	ENSP00000469981.1:p.Pro222Leu
ENST00000612460.4:c.575C>T	ENSP00000481037.1:p.Pro192Leu
ENST00000613002.4:c.533C>T	ENSP00000478154.1:p.Pro178Leu
ENST00000615986.4:c.*393C>T	ENSP00000480133.1:n.*393C>T
NM_000116.4:c.665C>T	NP_000107.1:p.Pro222Leu
NM_001303465.1:c.677C>T	NP_001290394.1:p.Pro226Leu
NM_181311.3:c.575C>T	NP_851828.1:p.Pro192Leu
NM_181312.3:c.623C>T	NP_851829.1:p.Pro208Leu
NM_181313.3:c.533C>T	NP_851830.1:p.Pro178Leu
NR_024048.2:n.1007C>T
XM_006724836.1:c.719C>T	XP_006724899.1:p.Pro240Leu
XM_006724837.1:c.704C>T	XP_006724900.1:p.Pro235Leu
XM_006724839.1:c.587C>T	XP_006724902.1:p.Pro196Leu
XM_006724841.2:c.458C>T	XP_006724904.1:p.Pro153Leu
XM_006724842.2:c.368C>T	XP_006724905.1:p.Pro123Leu
XM_011531189.1:c.506C>T	XP_011529491.1:p.Pro169Leu
XM_011531190.1:c.458C>T	XP_011529492.1:p.Pro153Leu
XM_011531191.1:c.389C>T	XP_011529493.1:p.Pro130Leu
XM_011531192.1:c.386C>T	XP_011529494.1:p.Pro129Leu
XR_938511.1:n.1013C>T
XM_006724841.4:c.458C>T	XP_006724904.1:p.Pro153Leu
XM_006724842.4:c.368C>T	XP_006724905.1:p.Pro123Leu
XM_011531191.2:c.389C>T	XP_011529493.1:p.Pro130Leu
XM_017029761.1:c.650C>T	XP_016885250.1:p.Pro217Leu
XM_017029762.1:c.629C>T	XP_016885251.1:p.Pro210Leu
XM_017029763.1:c.452C>T	XP_016885252.1:p.Pro151Leu
XM_017029764.1:c.386C>T	XP_016885253.1:p.Pro129Leu
XM_017029765.2:c.326C>T	XP_016885254.1:p.Pro109Leu
XM_024452431.1:c.623C>T	XP_024308199.1:p.Pro208Leu
NM_000116.5:c.665C>T MANE Select	NP_000107.1:p.Pro222Leu
NM_001303465.2:c.677C>T	NP_001290394.1:p.Pro226Leu
NM_181311.4:c.575C>T	NP_851828.1:p.Pro192Leu
NM_181312.4:c.623C>T	NP_851829.1:p.Pro208Leu
NM_181313.4:c.533C>T	NP_851830.1:p.Pro178Leu
NR_024048.3:n.986C>T