Canonical Allele Identifier: CA415185316

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648998A>C (hg19) ; chrX:g.154420659A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420659A>C , CM000685.2:g.154420659A>C	GRCh38
NC_000023.10:g.153648998A>C , CM000685.1:g.153648998A>C	GRCh37
NC_000023.9:g.153302192A>C	NCBI36
NG_009634.1:g.14122A>C
NG_009634.2:g.14125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1511A>C
ENST00000698317.1:n.2127A>C
ENST00000698318.1:n.1910A>C
ENST00000698319.1:n.1273A>C
ENST00000698320.1:n.1161A>C
ENST00000470127.2:n.1174A>C
ENST00000475699.6:c.665A>C	ENSP00000419854.3:p.Lys222Thr
ENST00000483674.3:n.583A>C
ENST00000601016.6:c.701A>C MANE Select	ENSP00000469981.1:p.Lys234Thr
ENST00000612012.5:c.659A>C	ENSP00000482070.2:p.Lys220Thr
ENST00000612460.5:c.611A>C	ENSP00000481037.1:p.Lys204Thr
ENST00000614595.2:n.2048A>C
ENST00000615658.5:n.1290A>C
ENST00000616020.5:c.713A>C	ENSP00000483636.2:p.Lys238Thr
ENST00000617701.5:c.*714A>C	ENSP00000481645.1:n.*714A>C
ENST00000651139.1:c.-83A>C	ENSP00000498957.1:n.-83A>C
ENST00000652354.1:c.383A>C	ENSP00000498734.1:p.Lys128Thr
ENST00000652358.1:c.494A>C	ENSP00000498464.1:p.Lys165Thr
ENST00000652390.1:c.620A>C	ENSP00000498858.1:p.Lys207Thr
ENST00000652476.1:n.1367A>C
ENST00000652644.1:c.314A>C	ENSP00000498496.1:p.Lys105Thr
ENST00000652682.1:c.758A>C	ENSP00000498288.1:p.Lys253Thr
ENST00000652685.1:n.1054A>C
ENST00000369776.8:c.611A>C	ENSP00000358791.4:p.Lys204Thr
ENST00000426231.5:c.698A>C
ENST00000475699.5:c.659A>C	ENSP00000419854.2:p.Lys220Thr
ENST00000494912.5:n.1390A>C
ENST00000498029.1:n.159A>C
ENST00000601016.5:c.701A>C	ENSP00000469981.1:p.Lys234Thr
ENST00000612460.4:c.611A>C	ENSP00000481037.1:p.Lys204Thr
ENST00000613002.4:c.569A>C	ENSP00000478154.1:p.Lys190Thr
ENST00000615986.4:c.*429A>C	ENSP00000480133.1:n.*429A>C
NM_000116.4:c.701A>C	NP_000107.1:p.Lys234Thr
NM_001303465.1:c.713A>C	NP_001290394.1:p.Lys238Thr
NM_181311.3:c.611A>C	NP_851828.1:p.Lys204Thr
NM_181312.3:c.659A>C	NP_851829.1:p.Lys220Thr
NM_181313.3:c.569A>C	NP_851830.1:p.Lys190Thr
NR_024048.2:n.1043A>C
XM_006724836.1:c.755A>C	XP_006724899.1:p.Lys252Thr
XM_006724837.1:c.740A>C	XP_006724900.1:p.Lys247Thr
XM_006724839.1:c.623A>C	XP_006724902.1:p.Lys208Thr
XM_006724841.2:c.494A>C	XP_006724904.1:p.Lys165Thr
XM_006724842.2:c.404A>C	XP_006724905.1:p.Lys135Thr
XM_011531189.1:c.542A>C	XP_011529491.1:p.Lys181Thr
XM_011531190.1:c.494A>C	XP_011529492.1:p.Lys165Thr
XM_011531191.1:c.425A>C	XP_011529493.1:p.Lys142Thr
XM_011531192.1:c.422A>C	XP_011529494.1:p.Lys141Thr
XR_938511.1:n.1049A>C
XM_006724841.4:c.494A>C	XP_006724904.1:p.Lys165Thr
XM_006724842.4:c.404A>C	XP_006724905.1:p.Lys135Thr
XM_011531191.2:c.425A>C	XP_011529493.1:p.Lys142Thr
XM_017029761.1:c.686A>C	XP_016885250.1:p.Lys229Thr
XM_017029762.1:c.665A>C	XP_016885251.1:p.Lys222Thr
XM_017029763.1:c.488A>C	XP_016885252.1:p.Lys163Thr
XM_017029764.1:c.422A>C	XP_016885253.1:p.Lys141Thr
XM_017029765.2:c.362A>C	XP_016885254.1:p.Lys121Thr
XM_024452431.1:c.659A>C	XP_024308199.1:p.Lys220Thr
NM_000116.5:c.701A>C MANE Select	NP_000107.1:p.Lys234Thr
NM_001303465.2:c.713A>C	NP_001290394.1:p.Lys238Thr
NM_181311.4:c.611A>C	NP_851828.1:p.Lys204Thr
NM_181312.4:c.659A>C	NP_851829.1:p.Lys220Thr
NM_181313.4:c.569A>C	NP_851830.1:p.Lys190Thr
NR_024048.3:n.1022A>C