Canonical Allele Identifier: CA415185400

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs868928768
• MyVariant Identifiers: chrX:g.153649025T>C (hg19) ; chrX:g.154420686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420686T>C , CM000685.2:g.154420686T>C	GRCh38
NC_000023.10:g.153649025T>C , CM000685.1:g.153649025T>C	GRCh37
NC_000023.9:g.153302219T>C	NCBI36
NG_009634.1:g.14149T>C
NG_009634.2:g.14152T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1538T>C
ENST00000698317.1:n.2154T>C
ENST00000698318.1:n.1937T>C
ENST00000698319.1:n.1300T>C
ENST00000698320.1:n.1188T>C
ENST00000470127.2:n.1201T>C
ENST00000475699.6:c.692T>C	ENSP00000419854.3:p.Phe231Ser
ENST00000483674.3:n.610T>C
ENST00000601016.6:c.728T>C MANE Select	ENSP00000469981.1:p.Phe243Ser
ENST00000612012.5:c.686T>C	ENSP00000482070.2:p.Phe229Ser
ENST00000612460.5:c.638T>C	ENSP00000481037.1:p.Phe213Ser
ENST00000614595.2:n.2075T>C
ENST00000615658.5:n.1317T>C
ENST00000616020.5:c.740T>C	ENSP00000483636.2:p.Phe247Ser
ENST00000617701.5:c.*741T>C	ENSP00000481645.1:n.*741T>C
ENST00000651139.1:c.-56T>C	ENSP00000498957.1:n.-56T>C
ENST00000652354.1:c.410T>C	ENSP00000498734.1:p.Phe137Ser
ENST00000652358.1:c.521T>C	ENSP00000498464.1:p.Phe174Ser
ENST00000652390.1:c.647T>C	ENSP00000498858.1:p.Phe216Ser
ENST00000652476.1:n.1394T>C
ENST00000652644.1:c.341T>C	ENSP00000498496.1:p.Phe114Ser
ENST00000652682.1:c.785T>C	ENSP00000498288.1:p.Phe262Ser
ENST00000652685.1:n.1081T>C
ENST00000369776.8:c.638T>C	ENSP00000358791.4:p.Phe213Ser
ENST00000426231.5:c.725T>C
ENST00000475699.5:c.686T>C	ENSP00000419854.2:p.Phe229Ser
ENST00000494912.5:n.1417T>C
ENST00000498029.1:n.186T>C
ENST00000601016.5:c.728T>C	ENSP00000469981.1:p.Phe243Ser
ENST00000612460.4:c.638T>C	ENSP00000481037.1:p.Phe213Ser
ENST00000613002.4:c.596T>C	ENSP00000478154.1:p.Phe199Ser
ENST00000615986.4:c.*456T>C	ENSP00000480133.1:n.*456T>C
NM_000116.4:c.728T>C	NP_000107.1:p.Phe243Ser
NM_001303465.1:c.740T>C	NP_001290394.1:p.Phe247Ser
NM_181311.3:c.638T>C	NP_851828.1:p.Phe213Ser
NM_181312.3:c.686T>C	NP_851829.1:p.Phe229Ser
NM_181313.3:c.596T>C	NP_851830.1:p.Phe199Ser
NR_024048.2:n.1070T>C
XM_006724836.1:c.782T>C	XP_006724899.1:p.Phe261Ser
XM_006724837.1:c.767T>C	XP_006724900.1:p.Phe256Ser
XM_006724839.1:c.650T>C	XP_006724902.1:p.Phe217Ser
XM_006724841.2:c.521T>C	XP_006724904.1:p.Phe174Ser
XM_006724842.2:c.431T>C	XP_006724905.1:p.Phe144Ser
XM_011531189.1:c.569T>C	XP_011529491.1:p.Phe190Ser
XM_011531190.1:c.521T>C	XP_011529492.1:p.Phe174Ser
XM_011531191.1:c.452T>C	XP_011529493.1:p.Phe151Ser
XM_011531192.1:c.449T>C	XP_011529494.1:p.Phe150Ser
XR_938511.1:n.1076T>C
XM_006724841.4:c.521T>C	XP_006724904.1:p.Phe174Ser
XM_006724842.4:c.431T>C	XP_006724905.1:p.Phe144Ser
XM_011531191.2:c.452T>C	XP_011529493.1:p.Phe151Ser
XM_017029761.1:c.713T>C	XP_016885250.1:p.Phe238Ser
XM_017029762.1:c.692T>C	XP_016885251.1:p.Phe231Ser
XM_017029763.1:c.515T>C	XP_016885252.1:p.Phe172Ser
XM_017029764.1:c.449T>C	XP_016885253.1:p.Phe150Ser
XM_017029765.2:c.389T>C	XP_016885254.1:p.Phe130Ser
XM_024452431.1:c.686T>C	XP_024308199.1:p.Phe229Ser
NM_000116.5:c.728T>C MANE Select	NP_000107.1:p.Phe243Ser
NM_001303465.2:c.740T>C	NP_001290394.1:p.Phe247Ser
NM_181311.4:c.638T>C	NP_851828.1:p.Phe213Ser
NM_181312.4:c.686T>C	NP_851829.1:p.Phe229Ser
NM_181313.4:c.596T>C	NP_851830.1:p.Phe199Ser
NR_024048.3:n.1049T>C