Canonical Allele Identifier: CA415184263

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648404A>C (hg19) ; chrX:g.154420065A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420065A>C , CM000685.2:g.154420065A>C	GRCh38
NC_000023.10:g.153648404A>C , CM000685.1:g.153648404A>C	GRCh37
NC_000023.9:g.153301598A>C	NCBI36
NG_009634.1:g.13528A>C
NG_009634.2:g.13531A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1427A>C
ENST00000698317.1:n.2043A>C
ENST00000698318.1:n.1826A>C
ENST00000698319.1:n.1189A>C
ENST00000698320.1:n.1077A>C
ENST00000470127.2:n.1090A>C
ENST00000475699.6:c.581A>C	ENSP00000419854.3:p.Asn194Thr
ENST00000483674.3:n.499A>C
ENST00000601016.6:c.617A>C MANE Select	ENSP00000469981.1:p.Asn206Thr
ENST00000612012.5:c.575A>C	ENSP00000482070.2:p.Asn192Thr
ENST00000612460.5:c.527A>C	ENSP00000481037.1:p.Asn176Thr
ENST00000614595.2:n.1964A>C
ENST00000615658.5:n.1206A>C
ENST00000616020.5:c.629A>C	ENSP00000483636.2:p.Asn210Thr
ENST00000617701.5:c.*630A>C	ENSP00000481645.1:n.*630A>C
ENST00000652354.1:c.299A>C	ENSP00000498734.1:p.Asn100Thr
ENST00000652358.1:c.410A>C	ENSP00000498464.1:p.Asn137Thr
ENST00000652390.1:c.536A>C	ENSP00000498858.1:p.Asn179Thr
ENST00000652476.1:n.1283A>C
ENST00000652644.1:c.230A>C	ENSP00000498496.1:p.Asn77Thr
ENST00000652682.1:c.674A>C	ENSP00000498288.1:p.Asn225Thr
ENST00000652685.1:n.970A>C
ENST00000369776.8:c.410A>C	ENSP00000358791.4:p.Asn137Thr
ENST00000426231.5:c.614A>C
ENST00000439735.2:c.524A>C	ENSP00000398193.1:p.Asn175Thr
ENST00000470127.1:n.196A>C
ENST00000475699.5:c.575A>C	ENSP00000419854.2:p.Asn192Thr
ENST00000494912.5:n.1306A>C
ENST00000498029.1:n.75A>C
ENST00000601016.5:c.617A>C	ENSP00000469981.1:p.Asn206Thr
ENST00000612012.4:c.581A>C	ENSP00000482070.1:p.Asn194Thr
ENST00000612460.4:c.527A>C	ENSP00000481037.1:p.Asn176Thr
ENST00000613002.4:c.485A>C	ENSP00000478154.1:p.Asn162Thr
ENST00000615658.4:n.1306A>C
ENST00000615986.4:c.*345A>C	ENSP00000480133.1:n.*345A>C
ENST00000620808.4:c.*203A>C	ENSP00000479311.1:n.*203A>C
NM_000116.4:c.617A>C	NP_000107.1:p.Asn206Thr
NM_001303465.1:c.629A>C	NP_001290394.1:p.Asn210Thr
NM_181311.3:c.527A>C	NP_851828.1:p.Asn176Thr
NM_181312.3:c.575A>C	NP_851829.1:p.Asn192Thr
NM_181313.3:c.485A>C	NP_851830.1:p.Asn162Thr
NR_024048.2:n.959A>C
XM_006724836.1:c.671A>C	XP_006724899.1:p.Asn224Thr
XM_006724837.1:c.539A>C	XP_006724900.1:p.Asn180Thr
XM_006724839.1:c.539A>C	XP_006724902.1:p.Asn180Thr
XM_006724841.2:c.410A>C	XP_006724904.1:p.Asn137Thr
XM_006724842.2:c.320A>C	XP_006724905.1:p.Asn107Thr
XM_011531189.1:c.458A>C	XP_011529491.1:p.Asn153Thr
XM_011531190.1:c.410A>C	XP_011529492.1:p.Asn137Thr
XM_011531191.1:c.341A>C	XP_011529493.1:p.Asn114Thr
XM_011531192.1:c.338A>C	XP_011529494.1:p.Asn113Thr
XR_938511.1:n.965A>C
XM_006724841.4:c.410A>C	XP_006724904.1:p.Asn137Thr
XM_006724842.4:c.320A>C	XP_006724905.1:p.Asn107Thr
XM_011531191.2:c.341A>C	XP_011529493.1:p.Asn114Thr
XM_017029761.1:c.485A>C	XP_016885250.1:p.Asn162Thr
XM_017029762.1:c.581A>C	XP_016885251.1:p.Asn194Thr
XM_017029763.1:c.404A>C	XP_016885252.1:p.Asn135Thr
XM_017029764.1:c.338A>C	XP_016885253.1:p.Asn113Thr
XM_017029765.2:c.278A>C	XP_016885254.1:p.Asn93Thr
XM_024452431.1:c.458A>C	XP_024308199.1:p.Asn153Thr
NM_000116.5:c.617A>C MANE Select	NP_000107.1:p.Asn206Thr
NM_001303465.2:c.629A>C	NP_001290394.1:p.Asn210Thr
NM_181311.4:c.527A>C	NP_851828.1:p.Asn176Thr
NM_181312.4:c.575A>C	NP_851829.1:p.Asn192Thr
NM_181313.4:c.485A>C	NP_851830.1:p.Asn162Thr
NR_024048.3:n.938A>C