Canonical Allele Identifier: CA415184343

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648418C>A (hg19) ; chrX:g.154420079C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420079C>A , CM000685.2:g.154420079C>A	GRCh38
NC_000023.10:g.153648418C>A , CM000685.1:g.153648418C>A	GRCh37
NC_000023.9:g.153301612C>A	NCBI36
NG_009634.1:g.13542C>A
NG_009634.2:g.13545C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1441C>A
ENST00000698317.1:n.2057C>A
ENST00000698318.1:n.1840C>A
ENST00000698319.1:n.1203C>A
ENST00000698320.1:n.1091C>A
ENST00000470127.2:n.1104C>A
ENST00000475699.6:c.595C>A	ENSP00000419854.3:p.Pro199Thr
ENST00000483674.3:n.513C>A
ENST00000601016.6:c.631C>A MANE Select	ENSP00000469981.1:p.Pro211Thr
ENST00000612012.5:c.589C>A	ENSP00000482070.2:p.Pro197Thr
ENST00000612460.5:c.541C>A	ENSP00000481037.1:p.Pro181Thr
ENST00000614595.2:n.1978C>A
ENST00000615658.5:n.1220C>A
ENST00000616020.5:c.643C>A	ENSP00000483636.2:p.Pro215Thr
ENST00000617701.5:c.*644C>A	ENSP00000481645.1:n.*644C>A
ENST00000652354.1:c.313C>A	ENSP00000498734.1:p.Pro105Thr
ENST00000652358.1:c.424C>A	ENSP00000498464.1:p.Pro142Thr
ENST00000652390.1:c.550C>A	ENSP00000498858.1:p.Pro184Thr
ENST00000652476.1:n.1297C>A
ENST00000652644.1:c.244C>A	ENSP00000498496.1:p.Pro82Thr
ENST00000652682.1:c.688C>A	ENSP00000498288.1:p.Pro230Thr
ENST00000652685.1:n.984C>A
ENST00000369776.8:c.424C>A	ENSP00000358791.4:p.Pro142Thr
ENST00000426231.5:c.628C>A
ENST00000439735.2:c.538C>A	ENSP00000398193.1:p.Pro180Thr
ENST00000470127.1:n.210C>A
ENST00000475699.5:c.589C>A	ENSP00000419854.2:p.Pro197Thr
ENST00000494912.5:n.1320C>A
ENST00000498029.1:n.89C>A
ENST00000601016.5:c.631C>A	ENSP00000469981.1:p.Pro211Thr
ENST00000612460.4:c.541C>A	ENSP00000481037.1:p.Pro181Thr
ENST00000613002.4:c.499C>A	ENSP00000478154.1:p.Pro167Thr
ENST00000615658.4:n.1320C>A
ENST00000615986.4:c.*359C>A	ENSP00000480133.1:n.*359C>A
NM_000116.4:c.631C>A	NP_000107.1:p.Pro211Thr
NM_001303465.1:c.643C>A	NP_001290394.1:p.Pro215Thr
NM_181311.3:c.541C>A	NP_851828.1:p.Pro181Thr
NM_181312.3:c.589C>A	NP_851829.1:p.Pro197Thr
NM_181313.3:c.499C>A	NP_851830.1:p.Pro167Thr
NR_024048.2:n.973C>A
XM_006724836.1:c.685C>A	XP_006724899.1:p.Pro229Thr
XM_006724837.1:c.553C>A	XP_006724900.1:p.Pro185Thr
XM_006724839.1:c.553C>A	XP_006724902.1:p.Pro185Thr
XM_006724841.2:c.424C>A	XP_006724904.1:p.Pro142Thr
XM_006724842.2:c.334C>A	XP_006724905.1:p.Pro112Thr
XM_011531189.1:c.472C>A	XP_011529491.1:p.Pro158Thr
XM_011531190.1:c.424C>A	XP_011529492.1:p.Pro142Thr
XM_011531191.1:c.355C>A	XP_011529493.1:p.Pro119Thr
XM_011531192.1:c.352C>A	XP_011529494.1:p.Pro118Thr
XR_938511.1:n.979C>A
XM_006724841.4:c.424C>A	XP_006724904.1:p.Pro142Thr
XM_006724842.4:c.334C>A	XP_006724905.1:p.Pro112Thr
XM_011531191.2:c.355C>A	XP_011529493.1:p.Pro119Thr
XM_017029761.1:c.499C>A	XP_016885250.1:p.Pro167Thr
XM_017029762.1:c.595C>A	XP_016885251.1:p.Pro199Thr
XM_017029763.1:c.418C>A	XP_016885252.1:p.Pro140Thr
XM_017029764.1:c.352C>A	XP_016885253.1:p.Pro118Thr
XM_017029765.2:c.292C>A	XP_016885254.1:p.Pro98Thr
XM_024452431.1:c.472C>A	XP_024308199.1:p.Pro158Thr
NM_000116.5:c.631C>A MANE Select	NP_000107.1:p.Pro211Thr
NM_001303465.2:c.643C>A	NP_001290394.1:p.Pro215Thr
NM_181311.4:c.541C>A	NP_851828.1:p.Pro181Thr
NM_181312.4:c.589C>A	NP_851829.1:p.Pro197Thr
NM_181313.4:c.499C>A	NP_851830.1:p.Pro167Thr
NR_024048.3:n.952C>A