Canonical Allele Identifier: CA10562386

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1062906
• ClinVar RCV Id: RCV001372676
• dbSNP Id: rs371236390
• ExAC: X:153648380 G / A
• gnomAD v2: X-153648380-G-A
• gnomAD v4: X-154420041-G-A
• MyVariant Identifiers: chrX:g.153648380G>A (hg19) ; chrX:g.154420041G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420041G>A , CM000685.2:g.154420041G>A	GRCh38
NC_000023.10:g.153648380G>A , CM000685.1:g.153648380G>A	GRCh37
NC_000023.9:g.153301574G>A	NCBI36
NG_009634.1:g.13504G>A
NG_009634.2:g.13507G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1403G>A
ENST00000698317.1:n.2019G>A
ENST00000698318.1:n.1802G>A
ENST00000698319.1:n.1165G>A
ENST00000698320.1:n.1053G>A
ENST00000470127.2:n.1066G>A
ENST00000475699.6:c.557G>A	ENSP00000419854.3:p.Arg186His
ENST00000483674.3:n.475G>A
ENST00000601016.6:c.593G>A MANE Select	ENSP00000469981.1:p.Arg198His
ENST00000612012.5:c.551G>A	ENSP00000482070.2:p.Arg184His
ENST00000612460.5:c.503G>A	ENSP00000481037.1:p.Arg168His
ENST00000614595.2:n.1940G>A
ENST00000615658.5:n.1182G>A
ENST00000616020.5:c.605G>A	ENSP00000483636.2:p.Arg202His
ENST00000617701.5:c.*606G>A	ENSP00000481645.1:n.*606G>A
ENST00000652354.1:c.275G>A	ENSP00000498734.1:p.Arg92His
ENST00000652358.1:c.386G>A	ENSP00000498464.1:p.Arg129His
ENST00000652390.1:c.512G>A	ENSP00000498858.1:p.Arg171His
ENST00000652476.1:n.1259G>A
ENST00000652644.1:c.206G>A	ENSP00000498496.1:p.Arg69His
ENST00000652682.1:c.650G>A	ENSP00000498288.1:p.Arg217His
ENST00000652685.1:n.946G>A
ENST00000369776.8:c.386G>A	ENSP00000358791.4:p.Arg129His
ENST00000426231.5:c.590G>A
ENST00000439735.2:c.500G>A	ENSP00000398193.1:p.Arg167His
ENST00000470127.1:n.172G>A
ENST00000475699.5:c.551G>A	ENSP00000419854.2:p.Arg184His
ENST00000494912.5:n.1282G>A
ENST00000498029.1:n.51G>A
ENST00000601016.5:c.593G>A	ENSP00000469981.1:p.Arg198His
ENST00000612012.4:c.557G>A	ENSP00000482070.1:p.Arg186His
ENST00000612460.4:c.503G>A	ENSP00000481037.1:p.Arg168His
ENST00000613002.4:c.461G>A	ENSP00000478154.1:p.Arg154His
ENST00000613634.4:n.1108G>A
ENST00000615658.4:n.1282G>A
ENST00000615986.4:c.*321G>A	ENSP00000480133.1:n.*321G>A
ENST00000620808.4:c.*179G>A	ENSP00000479311.1:n.*179G>A
NM_000116.4:c.593G>A	NP_000107.1:p.Arg198His
NM_001303465.1:c.605G>A	NP_001290394.1:p.Arg202His
NM_181311.3:c.503G>A	NP_851828.1:p.Arg168His
NM_181312.3:c.551G>A	NP_851829.1:p.Arg184His
NM_181313.3:c.461G>A	NP_851830.1:p.Arg154His
NR_024048.2:n.935G>A
XM_006724836.1:c.647G>A	XP_006724899.1:p.Arg216His
XM_006724837.1:c.515G>A	XP_006724900.1:p.Arg172His
XM_006724839.1:c.515G>A	XP_006724902.1:p.Arg172His
XM_006724841.2:c.386G>A	XP_006724904.1:p.Arg129His
XM_006724842.2:c.296G>A	XP_006724905.1:p.Arg99His
XM_011531189.1:c.434G>A	XP_011529491.1:p.Arg145His
XM_011531190.1:c.386G>A	XP_011529492.1:p.Arg129His
XM_011531191.1:c.317G>A	XP_011529493.1:p.Arg106His
XM_011531192.1:c.314G>A	XP_011529494.1:p.Arg105His
XR_938511.1:n.941G>A
XM_006724841.4:c.386G>A	XP_006724904.1:p.Arg129His
XM_006724842.4:c.296G>A	XP_006724905.1:p.Arg99His
XM_011531191.2:c.317G>A	XP_011529493.1:p.Arg106His
XM_017029761.1:c.461G>A	XP_016885250.1:p.Arg154His
XM_017029762.1:c.557G>A	XP_016885251.1:p.Arg186His
XM_017029763.1:c.380G>A	XP_016885252.1:p.Arg127His
XM_017029764.1:c.314G>A	XP_016885253.1:p.Arg105His
XM_017029765.2:c.254G>A	XP_016885254.1:p.Arg85His
XM_024452431.1:c.434G>A	XP_024308199.1:p.Arg145His
NM_000116.5:c.593G>A MANE Select	NP_000107.1:p.Arg198His
NM_001303465.2:c.605G>A	NP_001290394.1:p.Arg202His
NM_181311.4:c.503G>A	NP_851828.1:p.Arg168His
NM_181312.4:c.551G>A	NP_851829.1:p.Arg184His
NM_181313.4:c.461G>A	NP_851830.1:p.Arg154His
NR_024048.3:n.914G>A