Canonical Allele Identifier: CA415185313

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648997A>G (hg19) ; chrX:g.154420658A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420658A>G , CM000685.2:g.154420658A>G	GRCh38
NC_000023.10:g.153648997A>G , CM000685.1:g.153648997A>G	GRCh37
NC_000023.9:g.153302191A>G	NCBI36
NG_009634.1:g.14121A>G
NG_009634.2:g.14124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1510A>G
ENST00000698317.1:n.2126A>G
ENST00000698318.1:n.1909A>G
ENST00000698319.1:n.1272A>G
ENST00000698320.1:n.1160A>G
ENST00000470127.2:n.1173A>G
ENST00000475699.6:c.664A>G	ENSP00000419854.3:p.Lys222Glu
ENST00000483674.3:n.582A>G
ENST00000601016.6:c.700A>G MANE Select	ENSP00000469981.1:p.Lys234Glu
ENST00000612012.5:c.658A>G	ENSP00000482070.2:p.Lys220Glu
ENST00000612460.5:c.610A>G	ENSP00000481037.1:p.Lys204Glu
ENST00000614595.2:n.2047A>G
ENST00000615658.5:n.1289A>G
ENST00000616020.5:c.712A>G	ENSP00000483636.2:p.Lys238Glu
ENST00000617701.5:c.*713A>G	ENSP00000481645.1:n.*713A>G
ENST00000651139.1:c.-84A>G	ENSP00000498957.1:n.-84A>G
ENST00000652354.1:c.382A>G	ENSP00000498734.1:p.Lys128Glu
ENST00000652358.1:c.493A>G	ENSP00000498464.1:p.Lys165Glu
ENST00000652390.1:c.619A>G	ENSP00000498858.1:p.Lys207Glu
ENST00000652476.1:n.1366A>G
ENST00000652644.1:c.313A>G	ENSP00000498496.1:p.Lys105Glu
ENST00000652682.1:c.757A>G	ENSP00000498288.1:p.Lys253Glu
ENST00000652685.1:n.1053A>G
ENST00000369776.8:c.610A>G	ENSP00000358791.4:p.Lys204Glu
ENST00000426231.5:c.697A>G
ENST00000475699.5:c.658A>G	ENSP00000419854.2:p.Lys220Glu
ENST00000494912.5:n.1389A>G
ENST00000498029.1:n.158A>G
ENST00000601016.5:c.700A>G	ENSP00000469981.1:p.Lys234Glu
ENST00000612460.4:c.610A>G	ENSP00000481037.1:p.Lys204Glu
ENST00000613002.4:c.568A>G	ENSP00000478154.1:p.Lys190Glu
ENST00000615986.4:c.*428A>G	ENSP00000480133.1:n.*428A>G
NM_000116.4:c.700A>G	NP_000107.1:p.Lys234Glu
NM_001303465.1:c.712A>G	NP_001290394.1:p.Lys238Glu
NM_181311.3:c.610A>G	NP_851828.1:p.Lys204Glu
NM_181312.3:c.658A>G	NP_851829.1:p.Lys220Glu
NM_181313.3:c.568A>G	NP_851830.1:p.Lys190Glu
NR_024048.2:n.1042A>G
XM_006724836.1:c.754A>G	XP_006724899.1:p.Lys252Glu
XM_006724837.1:c.739A>G	XP_006724900.1:p.Lys247Glu
XM_006724839.1:c.622A>G	XP_006724902.1:p.Lys208Glu
XM_006724841.2:c.493A>G	XP_006724904.1:p.Lys165Glu
XM_006724842.2:c.403A>G	XP_006724905.1:p.Lys135Glu
XM_011531189.1:c.541A>G	XP_011529491.1:p.Lys181Glu
XM_011531190.1:c.493A>G	XP_011529492.1:p.Lys165Glu
XM_011531191.1:c.424A>G	XP_011529493.1:p.Lys142Glu
XM_011531192.1:c.421A>G	XP_011529494.1:p.Lys141Glu
XR_938511.1:n.1048A>G
XM_006724841.4:c.493A>G	XP_006724904.1:p.Lys165Glu
XM_006724842.4:c.403A>G	XP_006724905.1:p.Lys135Glu
XM_011531191.2:c.424A>G	XP_011529493.1:p.Lys142Glu
XM_017029761.1:c.685A>G	XP_016885250.1:p.Lys229Glu
XM_017029762.1:c.664A>G	XP_016885251.1:p.Lys222Glu
XM_017029763.1:c.487A>G	XP_016885252.1:p.Lys163Glu
XM_017029764.1:c.421A>G	XP_016885253.1:p.Lys141Glu
XM_017029765.2:c.361A>G	XP_016885254.1:p.Lys121Glu
XM_024452431.1:c.658A>G	XP_024308199.1:p.Lys220Glu
NM_000116.5:c.700A>G MANE Select	NP_000107.1:p.Lys234Glu
NM_001303465.2:c.712A>G	NP_001290394.1:p.Lys238Glu
NM_181311.4:c.610A>G	NP_851828.1:p.Lys204Glu
NM_181312.4:c.658A>G	NP_851829.1:p.Lys220Glu
NM_181313.4:c.568A>G	NP_851830.1:p.Lys190Glu
NR_024048.3:n.1021A>G