Canonical Allele Identifier: CA415185420

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649034T>C (hg19) ; chrX:g.154420695T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420695T>C , CM000685.2:g.154420695T>C	GRCh38
NC_000023.10:g.153649034T>C , CM000685.1:g.153649034T>C	GRCh37
NC_000023.9:g.153302228T>C	NCBI36
NG_009634.1:g.14158T>C
NG_009634.2:g.14161T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1547T>C
ENST00000698317.1:n.2163T>C
ENST00000698318.1:n.1946T>C
ENST00000698319.1:n.1309T>C
ENST00000698320.1:n.1197T>C
ENST00000470127.2:n.1210T>C
ENST00000475699.6:c.701T>C	ENSP00000419854.3:p.Leu234Pro
ENST00000483674.3:n.619T>C
ENST00000601016.6:c.737T>C MANE Select	ENSP00000469981.1:p.Leu246Pro
ENST00000612012.5:c.695T>C	ENSP00000482070.2:p.Leu232Pro
ENST00000612460.5:c.647T>C	ENSP00000481037.1:p.Leu216Pro
ENST00000614595.2:n.2084T>C
ENST00000615658.5:n.1326T>C
ENST00000616020.5:c.749T>C	ENSP00000483636.2:p.Leu250Pro
ENST00000617701.5:c.*750T>C	ENSP00000481645.1:n.*750T>C
ENST00000651139.1:c.-47T>C	ENSP00000498957.1:n.-47T>C
ENST00000652354.1:c.419T>C	ENSP00000498734.1:p.Leu140Pro
ENST00000652358.1:c.530T>C	ENSP00000498464.1:p.Leu177Pro
ENST00000652390.1:c.656T>C	ENSP00000498858.1:p.Leu219Pro
ENST00000652476.1:n.1403T>C
ENST00000652644.1:c.350T>C	ENSP00000498496.1:p.Leu117Pro
ENST00000652682.1:c.794T>C	ENSP00000498288.1:p.Leu265Pro
ENST00000652685.1:n.1090T>C
ENST00000369776.8:c.647T>C	ENSP00000358791.4:p.Leu216Pro
ENST00000426231.5:c.734T>C
ENST00000475699.5:c.695T>C	ENSP00000419854.2:p.Leu232Pro
ENST00000494912.5:n.1426T>C
ENST00000498029.1:n.195T>C
ENST00000601016.5:c.737T>C	ENSP00000469981.1:p.Leu246Pro
ENST00000612460.4:c.647T>C	ENSP00000481037.1:p.Leu216Pro
ENST00000613002.4:c.605T>C	ENSP00000478154.1:p.Leu202Pro
ENST00000615986.4:c.*465T>C	ENSP00000480133.1:n.*465T>C
NM_000116.4:c.737T>C	NP_000107.1:p.Leu246Pro
NM_001303465.1:c.749T>C	NP_001290394.1:p.Leu250Pro
NM_181311.3:c.647T>C	NP_851828.1:p.Leu216Pro
NM_181312.3:c.695T>C	NP_851829.1:p.Leu232Pro
NM_181313.3:c.605T>C	NP_851830.1:p.Leu202Pro
NR_024048.2:n.1079T>C
XM_006724836.1:c.791T>C	XP_006724899.1:p.Leu264Pro
XM_006724837.1:c.776T>C	XP_006724900.1:p.Leu259Pro
XM_006724839.1:c.659T>C	XP_006724902.1:p.Leu220Pro
XM_006724841.2:c.530T>C	XP_006724904.1:p.Leu177Pro
XM_006724842.2:c.440T>C	XP_006724905.1:p.Leu147Pro
XM_011531189.1:c.578T>C	XP_011529491.1:p.Leu193Pro
XM_011531190.1:c.530T>C	XP_011529492.1:p.Leu177Pro
XM_011531191.1:c.461T>C	XP_011529493.1:p.Leu154Pro
XM_011531192.1:c.458T>C	XP_011529494.1:p.Leu153Pro
XR_938511.1:n.1085T>C
XM_006724841.4:c.530T>C	XP_006724904.1:p.Leu177Pro
XM_006724842.4:c.440T>C	XP_006724905.1:p.Leu147Pro
XM_011531191.2:c.461T>C	XP_011529493.1:p.Leu154Pro
XM_017029761.1:c.722T>C	XP_016885250.1:p.Leu241Pro
XM_017029762.1:c.701T>C	XP_016885251.1:p.Leu234Pro
XM_017029763.1:c.524T>C	XP_016885252.1:p.Leu175Pro
XM_017029764.1:c.458T>C	XP_016885253.1:p.Leu153Pro
XM_017029765.2:c.398T>C	XP_016885254.1:p.Leu133Pro
XM_024452431.1:c.695T>C	XP_024308199.1:p.Leu232Pro
NM_000116.5:c.737T>C MANE Select	NP_000107.1:p.Leu246Pro
NM_001303465.2:c.749T>C	NP_001290394.1:p.Leu250Pro
NM_181311.4:c.647T>C	NP_851828.1:p.Leu216Pro
NM_181312.4:c.695T>C	NP_851829.1:p.Leu232Pro
NM_181313.4:c.605T>C	NP_851830.1:p.Leu202Pro
NR_024048.3:n.1058T>C