Canonical Allele Identifier: CA261282

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 42256
• ClinVar RCV Id: RCV000035089
• dbSNP Id: rs397515740
• MyVariant Identifiers: chrX:g.153641841T>C (hg19) ; chrX:g.154413504T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413504T>C , CM000685.2:g.154413504T>C	GRCh38
NC_000023.10:g.153641841T>C , CM000685.1:g.153641841T>C	GRCh37
NC_000023.9:g.153295035T>C	NCBI36
NG_009634.1:g.6965T>C
NG_012884.2:g.3585A>G
NG_009634.2:g.6970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.841T>C
ENST00000698235.1:n.381T>C
ENST00000698317.1:n.1367T>C
ENST00000698318.1:n.1240T>C
ENST00000470127.2:n.585T>C
ENST00000475699.6:c.361T>C	ENSP00000419854.3:p.Cys121Arg
ENST00000476800.2:n.1493T>C
ENST00000483674.3:n.198T>C
ENST00000601016.6:c.307T>C MANE Select	ENSP00000469981.1:p.Cys103Arg
ENST00000612012.5:c.307T>C	ENSP00000482070.2:p.Cys103Arg
ENST00000612460.5:c.307T>C	ENSP00000481037.1:p.Cys103Arg
ENST00000614595.2:n.1744T>C
ENST00000615658.5:n.620T>C
ENST00000616020.5:c.361T>C	ENSP00000483636.2:p.Cys121Arg
ENST00000617701.5:c.*125T>C	ENSP00000481645.1:n.*125T>C
ENST00000621647.2:n.589T>C
ENST00000652354.1:c.31T>C	ENSP00000498734.1:p.Cys11Arg
ENST00000652358.1:c.100T>C	ENSP00000498464.1:p.Cys34Arg
ENST00000652390.1:c.226T>C	ENSP00000498858.1:p.Cys76Arg
ENST00000652476.1:n.697T>C
ENST00000652682.1:c.307T>C	ENSP00000498288.1:p.Cys103Arg
ENST00000652685.1:n.465T>C
ENST00000369776.8:c.232T>C	ENSP00000358791.4:p.Cys78Arg
ENST00000426231.5:c.223T>C
ENST00000439735.2:c.307T>C	ENSP00000398193.1:p.Cys103Arg
ENST00000475699.5:c.307T>C	ENSP00000419854.2:p.Cys103Arg
ENST00000476679.5:n.220T>C
ENST00000476800.1:n.414T>C
ENST00000479875.1:n.336T>C
ENST00000483674.2:n.16T>C
ENST00000483780.5:n.81T>C
ENST00000601016.5:c.307T>C	ENSP00000469981.1:p.Cys103Arg
ENST00000612012.4:c.361T>C	ENSP00000482070.1:p.Cys121Arg
ENST00000612460.4:c.307T>C	ENSP00000481037.1:p.Cys103Arg
ENST00000613002.4:c.307T>C	ENSP00000478154.1:p.Cys103Arg
ENST00000613634.4:n.627T>C
ENST00000615658.4:n.720T>C
ENST00000615986.4:c.*125T>C	ENSP00000480133.1:n.*125T>C
ENST00000616020.4:c.361T>C	ENSP00000483636.1:p.Cys121Arg
ENST00000617701.4:c.*137T>C	ENSP00000481645.1:n.*137T>C
ENST00000620808.4:c.*106T>C	ENSP00000479311.1:n.*106T>C
ENST00000621647.1:n.821T>C
NM_000116.4:c.307T>C	NP_000107.1:p.Cys103Arg
NM_001303465.1:c.361T>C	NP_001290394.1:p.Cys121Arg
NM_181311.3:c.307T>C	NP_851828.1:p.Cys103Arg
NM_181312.3:c.307T>C	NP_851829.1:p.Cys103Arg
NM_181313.3:c.307T>C	NP_851830.1:p.Cys103Arg
NR_024048.2:n.739T>C
XM_006724836.1:c.361T>C	XP_006724899.1:p.Cys121Arg
XM_006724837.1:c.361T>C	XP_006724900.1:p.Cys121Arg
XM_006724839.1:c.361T>C	XP_006724902.1:p.Cys121Arg
XM_006724841.2:c.100T>C	XP_006724904.1:p.Cys34Arg
XM_006724842.2:c.100T>C	XP_006724905.1:p.Cys34Arg
XM_011531189.1:c.361T>C	XP_011529491.1:p.Cys121Arg
XM_011531190.1:c.100T>C	XP_011529492.1:p.Cys34Arg
XM_011531191.1:c.31T>C	XP_011529493.1:p.Cys11Arg
XM_011531192.1:c.28T>C	XP_011529494.1:p.Cys10Arg
XR_938511.1:n.664T>C
XM_006724841.4:c.100T>C	XP_006724904.1:p.Cys34Arg
XM_006724842.4:c.100T>C	XP_006724905.1:p.Cys34Arg
XM_011531191.2:c.31T>C	XP_011529493.1:p.Cys11Arg
XM_017029761.1:c.307T>C	XP_016885250.1:p.Cys103Arg
XM_017029762.1:c.361T>C	XP_016885251.1:p.Cys121Arg
XM_017029763.1:c.307T>C	XP_016885252.1:p.Cys103Arg
XM_017029764.1:c.28T>C	XP_016885253.1:p.Cys10Arg
XM_017029765.2:c.100T>C	XP_016885254.1:p.Cys34Arg
XM_024452431.1:c.361T>C	XP_024308199.1:p.Cys121Arg
NM_000116.5:c.307T>C MANE Select	NP_000107.1:p.Cys103Arg
NM_001303465.2:c.361T>C	NP_001290394.1:p.Cys121Arg
NM_181311.4:c.307T>C	NP_851828.1:p.Cys103Arg
NM_181312.4:c.307T>C	NP_851829.1:p.Cys103Arg
NM_181313.4:c.307T>C	NP_851830.1:p.Cys103Arg
NR_024048.3:n.718T>C