Canonical Allele Identifier: CA415185188

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648581C>A (hg19) ; chrX:g.154420242C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420242C>A , CM000685.2:g.154420242C>A	GRCh38
NC_000023.10:g.153648581C>A , CM000685.1:g.153648581C>A	GRCh37
NC_000023.9:g.153301775C>A	NCBI36
NG_009634.1:g.13705C>A
NG_009634.2:g.13708C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1487C>A
ENST00000698317.1:n.2103C>A
ENST00000698318.1:n.1886C>A
ENST00000698319.1:n.1249C>A
ENST00000698320.1:n.1137C>A
ENST00000470127.2:n.1150C>A
ENST00000475699.6:c.641C>A	ENSP00000419854.3:p.Pro214His
ENST00000483674.3:n.559C>A
ENST00000601016.6:c.677C>A MANE Select	ENSP00000469981.1:p.Pro226His
ENST00000612012.5:c.635C>A	ENSP00000482070.2:p.Pro212His
ENST00000612460.5:c.587C>A	ENSP00000481037.1:p.Pro196His
ENST00000614595.2:n.2024C>A
ENST00000615658.5:n.1266C>A
ENST00000616020.5:c.689C>A	ENSP00000483636.2:p.Pro230His
ENST00000617701.5:c.*690C>A	ENSP00000481645.1:n.*690C>A
ENST00000652354.1:c.359C>A	ENSP00000498734.1:p.Pro120His
ENST00000652358.1:c.470C>A	ENSP00000498464.1:p.Pro157His
ENST00000652390.1:c.596C>A	ENSP00000498858.1:p.Pro199His
ENST00000652476.1:n.1343C>A
ENST00000652644.1:c.290C>A	ENSP00000498496.1:p.Pro97His
ENST00000652682.1:c.734C>A	ENSP00000498288.1:p.Pro245His
ENST00000652685.1:n.1030C>A
ENST00000369776.8:c.587C>A	ENSP00000358791.4:p.Pro196His
ENST00000426231.5:c.674C>A
ENST00000475699.5:c.635C>A	ENSP00000419854.2:p.Pro212His
ENST00000494912.5:n.1366C>A
ENST00000498029.1:n.135C>A
ENST00000601016.5:c.677C>A	ENSP00000469981.1:p.Pro226His
ENST00000612460.4:c.587C>A	ENSP00000481037.1:p.Pro196His
ENST00000613002.4:c.545C>A	ENSP00000478154.1:p.Pro182His
ENST00000615986.4:c.*405C>A	ENSP00000480133.1:n.*405C>A
NM_000116.4:c.677C>A	NP_000107.1:p.Pro226His
NM_001303465.1:c.689C>A	NP_001290394.1:p.Pro230His
NM_181311.3:c.587C>A	NP_851828.1:p.Pro196His
NM_181312.3:c.635C>A	NP_851829.1:p.Pro212His
NM_181313.3:c.545C>A	NP_851830.1:p.Pro182His
NR_024048.2:n.1019C>A
XM_006724836.1:c.731C>A	XP_006724899.1:p.Pro244His
XM_006724837.1:c.716C>A	XP_006724900.1:p.Pro239His
XM_006724839.1:c.599C>A	XP_006724902.1:p.Pro200His
XM_006724841.2:c.470C>A	XP_006724904.1:p.Pro157His
XM_006724842.2:c.380C>A	XP_006724905.1:p.Pro127His
XM_011531189.1:c.518C>A	XP_011529491.1:p.Pro173His
XM_011531190.1:c.470C>A	XP_011529492.1:p.Pro157His
XM_011531191.1:c.401C>A	XP_011529493.1:p.Pro134His
XM_011531192.1:c.398C>A	XP_011529494.1:p.Pro133His
XR_938511.1:n.1025C>A
XM_006724841.4:c.470C>A	XP_006724904.1:p.Pro157His
XM_006724842.4:c.380C>A	XP_006724905.1:p.Pro127His
XM_011531191.2:c.401C>A	XP_011529493.1:p.Pro134His
XM_017029761.1:c.662C>A	XP_016885250.1:p.Pro221His
XM_017029762.1:c.641C>A	XP_016885251.1:p.Pro214His
XM_017029763.1:c.464C>A	XP_016885252.1:p.Pro155His
XM_017029764.1:c.398C>A	XP_016885253.1:p.Pro133His
XM_017029765.2:c.338C>A	XP_016885254.1:p.Pro113His
XM_024452431.1:c.635C>A	XP_024308199.1:p.Pro212His
NM_000116.5:c.677C>A MANE Select	NP_000107.1:p.Pro226His
NM_001303465.2:c.689C>A	NP_001290394.1:p.Pro230His
NM_181311.4:c.587C>A	NP_851828.1:p.Pro196His
NM_181312.4:c.635C>A	NP_851829.1:p.Pro212His
NM_181313.4:c.545C>A	NP_851830.1:p.Pro182His
NR_024048.3:n.998C>A