Canonical Allele Identifier: CA10562329

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 914161
• ClinVar RCV Id: RCV001168189 ; RCV001168190 ; RCV001168191 ; RCV001528484 ; RCV004548040
• dbSNP Id: rs782564325
• ExAC: X:153641885 G / A
• gnomAD v2: X-153641885-G-A
• gnomAD v3: X-154413548-G-A
• gnomAD v4: X-154413548-G-A
• MyVariant Identifiers: chrX:g.153641885G>A (hg19) ; chrX:g.154413548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413548G>A , CM000685.2:g.154413548G>A	GRCh38
NC_000023.10:g.153641885G>A , CM000685.1:g.153641885G>A	GRCh37
NC_000023.9:g.153295079G>A	NCBI36
NG_009634.1:g.7009G>A
NG_012884.2:g.3541C>T
NG_009634.2:g.7014G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.885G>A
ENST00000698235.1:n.425G>A
ENST00000698317.1:n.1411G>A
ENST00000698318.1:n.1284G>A
ENST00000470127.2:n.629G>A
ENST00000475699.6:c.405G>A	ENSP00000419854.3:p.Lys135=
ENST00000476800.2:n.1537G>A
ENST00000483674.3:n.242G>A
ENST00000601016.6:c.351G>A MANE Select	ENSP00000469981.1:p.Lys117=
ENST00000612012.5:c.351G>A	ENSP00000482070.2:p.Lys117=
ENST00000612460.5:c.351G>A	ENSP00000481037.1:p.Lys117=
ENST00000614595.2:n.1788G>A
ENST00000615658.5:n.664G>A
ENST00000616020.5:c.405G>A	ENSP00000483636.2:p.Lys135=
ENST00000617701.5:c.*169G>A	ENSP00000481645.1:n.*169G>A
ENST00000621647.2:n.633G>A
ENST00000652354.1:c.75G>A	ENSP00000498734.1:p.Lys25=
ENST00000652358.1:c.144G>A	ENSP00000498464.1:p.Lys48=
ENST00000652390.1:c.270G>A	ENSP00000498858.1:p.Lys90=
ENST00000652476.1:n.741G>A
ENST00000652682.1:c.351G>A	ENSP00000498288.1:p.Lys117=
ENST00000652685.1:n.509G>A
ENST00000369776.8:c.276G>A	ENSP00000358791.4:p.Lys92=
ENST00000426231.5:c.267G>A
ENST00000439735.2:c.351G>A	ENSP00000398193.1:p.Lys117=
ENST00000470127.1:n.20G>A
ENST00000475699.5:c.351G>A	ENSP00000419854.2:p.Lys117=
ENST00000476679.5:n.264G>A
ENST00000476800.1:n.458G>A
ENST00000479875.1:n.380G>A
ENST00000483674.2:n.60G>A
ENST00000483780.5:n.125G>A
ENST00000601016.5:c.351G>A	ENSP00000469981.1:p.Lys117=
ENST00000612012.4:c.405G>A	ENSP00000482070.1:p.Lys135=
ENST00000612460.4:c.351G>A	ENSP00000481037.1:p.Lys117=
ENST00000613002.4:c.351G>A	ENSP00000478154.1:p.Lys117=
ENST00000613634.4:n.671G>A
ENST00000615658.4:n.764G>A
ENST00000615986.4:c.*169G>A	ENSP00000480133.1:n.*169G>A
ENST00000616020.4:c.405G>A	ENSP00000483636.1:p.Lys135=
ENST00000617701.4:c.*181G>A	ENSP00000481645.1:n.*181G>A
ENST00000620808.4:c.*150G>A	ENSP00000479311.1:n.*150G>A
ENST00000621647.1:n.865G>A
NM_000116.4:c.351G>A	NP_000107.1:p.Lys117=
NM_001303465.1:c.405G>A	NP_001290394.1:p.Lys135=
NM_181311.3:c.351G>A	NP_851828.1:p.Lys117=
NM_181312.3:c.351G>A	NP_851829.1:p.Lys117=
NM_181313.3:c.351G>A	NP_851830.1:p.Lys117=
NR_024048.2:n.783G>A
XM_006724836.1:c.405G>A	XP_006724899.1:p.Lys135=
XM_006724837.1:c.405G>A	XP_006724900.1:p.Lys135=
XM_006724839.1:c.405G>A	XP_006724902.1:p.Lys135=
XM_006724841.2:c.144G>A	XP_006724904.1:p.Lys48=
XM_006724842.2:c.144G>A	XP_006724905.1:p.Lys48=
XM_011531189.1:c.405G>A	XP_011529491.1:p.Lys135=
XM_011531190.1:c.144G>A	XP_011529492.1:p.Lys48=
XM_011531191.1:c.75G>A	XP_011529493.1:p.Lys25=
XM_011531192.1:c.72G>A	XP_011529494.1:p.Lys24=
XR_938511.1:n.708G>A
XM_006724841.4:c.144G>A	XP_006724904.1:p.Lys48=
XM_006724842.4:c.144G>A	XP_006724905.1:p.Lys48=
XM_011531191.2:c.75G>A	XP_011529493.1:p.Lys25=
XM_017029761.1:c.351G>A	XP_016885250.1:p.Lys117=
XM_017029762.1:c.405G>A	XP_016885251.1:p.Lys135=
XM_017029763.1:c.351G>A	XP_016885252.1:p.Lys117=
XM_017029764.1:c.72G>A	XP_016885253.1:p.Lys24=
XM_017029765.2:c.144G>A	XP_016885254.1:p.Lys48=
XM_024452431.1:c.405G>A	XP_024308199.1:p.Lys135=
NM_000116.5:c.351G>A MANE Select	NP_000107.1:p.Lys117=
NM_001303465.2:c.405G>A	NP_001290394.1:p.Lys135=
NM_181311.4:c.351G>A	NP_851828.1:p.Lys117=
NM_181312.4:c.351G>A	NP_851829.1:p.Lys117=
NM_181313.4:c.351G>A	NP_851830.1:p.Lys117=
NR_024048.3:n.762G>A