Canonical Allele Identifier: CA415185312

Gene: TAFAZZIN

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1510A>C
ENST00000698317.1:n.2126A>C
ENST00000698318.1:n.1909A>C
ENST00000698319.1:n.1272A>C
ENST00000698320.1:n.1160A>C
ENST00000470127.2:n.1173A>C
ENST00000475699.6:c.664A>C	ENSP00000419854.3:p.Lys222Gln
ENST00000483674.3:n.582A>C
ENST00000601016.6:c.700A>C MANE Select	ENSP00000469981.1:p.Lys234Gln
ENST00000612012.5:c.658A>C	ENSP00000482070.2:p.Lys220Gln
ENST00000612460.5:c.610A>C	ENSP00000481037.1:p.Lys204Gln
ENST00000614595.2:n.2047A>C
ENST00000615658.5:n.1289A>C
ENST00000616020.5:c.712A>C	ENSP00000483636.2:p.Lys238Gln
ENST00000617701.5:c.*713A>C	ENSP00000481645.1:n.*713A>C
ENST00000651139.1:c.-84A>C	ENSP00000498957.1:n.-84A>C
ENST00000652354.1:c.382A>C	ENSP00000498734.1:p.Lys128Gln
ENST00000652358.1:c.493A>C	ENSP00000498464.1:p.Lys165Gln
ENST00000652390.1:c.619A>C	ENSP00000498858.1:p.Lys207Gln
ENST00000652476.1:n.1366A>C
ENST00000652644.1:c.313A>C	ENSP00000498496.1:p.Lys105Gln
ENST00000652682.1:c.757A>C	ENSP00000498288.1:p.Lys253Gln
ENST00000652685.1:n.1053A>C
ENST00000369776.8:c.610A>C	ENSP00000358791.4:p.Lys204Gln
ENST00000426231.5:c.697A>C
ENST00000475699.5:c.658A>C	ENSP00000419854.2:p.Lys220Gln
ENST00000494912.5:n.1389A>C
ENST00000498029.1:n.158A>C
ENST00000601016.5:c.700A>C	ENSP00000469981.1:p.Lys234Gln
ENST00000612460.4:c.610A>C	ENSP00000481037.1:p.Lys204Gln
ENST00000613002.4:c.568A>C	ENSP00000478154.1:p.Lys190Gln
ENST00000615986.4:c.*428A>C	ENSP00000480133.1:n.*428A>C
NM_000116.4:c.700A>C	NP_000107.1:p.Lys234Gln
NM_001303465.1:c.712A>C	NP_001290394.1:p.Lys238Gln
NM_181311.3:c.610A>C	NP_851828.1:p.Lys204Gln
NM_181312.3:c.658A>C	NP_851829.1:p.Lys220Gln
NM_181313.3:c.568A>C	NP_851830.1:p.Lys190Gln
NR_024048.2:n.1042A>C
XM_006724836.1:c.754A>C	XP_006724899.1:p.Lys252Gln
XM_006724837.1:c.739A>C	XP_006724900.1:p.Lys247Gln
XM_006724839.1:c.622A>C	XP_006724902.1:p.Lys208Gln
XM_006724841.2:c.493A>C	XP_006724904.1:p.Lys165Gln
XM_006724842.2:c.403A>C	XP_006724905.1:p.Lys135Gln
XM_011531189.1:c.541A>C	XP_011529491.1:p.Lys181Gln
XM_011531190.1:c.493A>C	XP_011529492.1:p.Lys165Gln
XM_011531191.1:c.424A>C	XP_011529493.1:p.Lys142Gln
XM_011531192.1:c.421A>C	XP_011529494.1:p.Lys141Gln
XR_938511.1:n.1048A>C
XM_006724841.4:c.493A>C	XP_006724904.1:p.Lys165Gln
XM_006724842.4:c.403A>C	XP_006724905.1:p.Lys135Gln
XM_011531191.2:c.424A>C	XP_011529493.1:p.Lys142Gln
XM_017029761.1:c.685A>C	XP_016885250.1:p.Lys229Gln
XM_017029762.1:c.664A>C	XP_016885251.1:p.Lys222Gln
XM_017029763.1:c.487A>C	XP_016885252.1:p.Lys163Gln
XM_017029764.1:c.421A>C	XP_016885253.1:p.Lys141Gln
XM_017029765.2:c.361A>C	XP_016885254.1:p.Lys121Gln
XM_024452431.1:c.658A>C	XP_024308199.1:p.Lys220Gln
NM_000116.5:c.700A>C MANE Select	NP_000107.1:p.Lys234Gln
NM_001303465.2:c.712A>C	NP_001290394.1:p.Lys238Gln
NM_181311.4:c.610A>C	NP_851828.1:p.Lys204Gln
NM_181312.4:c.658A>C	NP_851829.1:p.Lys220Gln
NM_181313.4:c.568A>C	NP_851830.1:p.Lys190Gln
NR_024048.3:n.1021A>C