Canonical Allele Identifier: CA645290994

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1346270567
• gnomAD v2: X-153648164-C-T
• gnomAD v3: X-154419825-C-T
• gnomAD v4: X-154419825-C-T
• MyVariant Identifiers: chrX:g.153648164C>T (hg19) ; chrX:g.154419825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419825C>T , CM000685.2:g.154419825C>T	GRCh38
NC_000023.10:g.153648164C>T , CM000685.1:g.153648164C>T	GRCh37
NC_000023.9:g.153301358C>T	NCBI36
NG_009634.1:g.13288C>T
NG_009634.2:g.13291C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1187C>T
ENST00000698317.1:n.1803C>T
ENST00000698318.1:n.1586C>T
ENST00000698319.1:n.949C>T
ENST00000698320.1:n.837C>T
ENST00000470127.2:n.850C>T
ENST00000475699.6:c.547+79C>T	ENSP00000419854.3:n.547+79C>T
ENST00000483674.3:n.465+79C>T
ENST00000601016.6:c.583+79C>T MANE Select	ENSP00000469981.1:n.583+79C>T
ENST00000612012.5:c.541+202C>T	ENSP00000482070.2:n.541+202C>T
ENST00000612460.5:c.493+79C>T	ENSP00000481037.1:n.493+79C>T
ENST00000614595.2:n.1930+79C>T
ENST00000615658.5:n.966C>T
ENST00000616020.5:c.595+202C>T	ENSP00000483636.2:n.595+202C>T
ENST00000617701.5:c.*390C>T	ENSP00000481645.1:n.*390C>T
ENST00000652354.1:c.265+202C>T	ENSP00000498734.1:n.265+202C>T
ENST00000652358.1:c.376+79C>T	ENSP00000498464.1:n.376+79C>T
ENST00000652390.1:c.502+79C>T	ENSP00000498858.1:n.502+79C>T
ENST00000652476.1:n.1043C>T
ENST00000652644.1:c.196+79C>T	ENSP00000498496.1:n.196+79C>T
ENST00000652682.1:c.640+79C>T	ENSP00000498288.1:n.640+79C>T
ENST00000652685.1:n.730C>T
ENST00000369776.8:c.376+202C>T	ENSP00000358791.4:n.376+202C>T
ENST00000426231.5:c.580+79C>T
ENST00000439735.2:c.490+79C>T	ENSP00000398193.1:n.490+79C>T
ENST00000470127.1:n.162+79C>T
ENST00000475699.5:c.541+202C>T	ENSP00000419854.2:n.541+202C>T
ENST00000476679.5:n.656C>T
ENST00000494912.5:n.1272+79C>T
ENST00000601016.5:c.583+79C>T	ENSP00000469981.1:n.583+79C>T
ENST00000612012.4:c.547+79C>T	ENSP00000482070.1:n.547+79C>T
ENST00000612460.4:c.493+79C>T	ENSP00000481037.1:n.493+79C>T
ENST00000613002.4:c.451+202C>T	ENSP00000478154.1:n.451+202C>T
ENST00000613634.4:n.892C>T
ENST00000615658.4:n.1066C>T
ENST00000615986.4:c.*311+79C>T	ENSP00000480133.1:n.*311+79C>T
ENST00000620808.4:c.*170-207C>T	ENSP00000479311.1:n.*170-207C>T
NM_000116.4:c.583+79C>T	NP_000107.1:n.583+79C>T
NM_001303465.1:c.595+202C>T	NP_001290394.1:n.595+202C>T
NM_181311.3:c.493+79C>T	NP_851828.1:n.493+79C>T
NM_181312.3:c.541+202C>T	NP_851829.1:n.541+202C>T
NM_181313.3:c.451+202C>T	NP_851830.1:n.451+202C>T
NR_024048.2:n.925+79C>T
XM_006724836.1:c.637+79C>T	XP_006724899.1:n.637+79C>T
XM_006724837.1:c.505+202C>T	XP_006724900.1:n.505+202C>T
XM_006724839.1:c.505+202C>T	XP_006724902.1:n.505+202C>T
XM_006724841.2:c.376+79C>T	XP_006724904.1:n.376+79C>T
XM_006724842.2:c.286+79C>T	XP_006724905.1:n.286+79C>T
XM_011531189.1:c.425-207C>T	XP_011529491.1:n.425-207C>T
XM_011531190.1:c.376+79C>T	XP_011529492.1:n.376+79C>T
XM_011531191.1:c.307+79C>T	XP_011529493.1:n.307+79C>T
XM_011531192.1:c.304+79C>T	XP_011529494.1:n.304+79C>T
XR_938511.1:n.931+79C>T
XM_006724841.4:c.376+79C>T	XP_006724904.1:n.376+79C>T
XM_006724842.4:c.286+79C>T	XP_006724905.1:n.286+79C>T
XM_011531191.2:c.307+79C>T	XP_011529493.1:n.307+79C>T
XM_017029761.1:c.451+202C>T	XP_016885250.1:n.451+202C>T
XM_017029762.1:c.547+79C>T	XP_016885251.1:n.547+79C>T
XM_017029763.1:c.371-207C>T	XP_016885252.1:n.371-207C>T
XM_017029764.1:c.304+79C>T	XP_016885253.1:n.304+79C>T
XM_017029765.2:c.244+202C>T	XP_016885254.1:n.244+202C>T
XM_024452431.1:c.425-207C>T	XP_024308199.1:n.425-207C>T
NM_000116.5:c.583+79C>T MANE Select	NP_000107.1:n.583+79C>T
NM_001303465.2:c.595+202C>T	NP_001290394.1:n.595+202C>T
NM_181311.4:c.493+79C>T	NP_851828.1:n.493+79C>T
NM_181312.4:c.541+202C>T	NP_851829.1:n.541+202C>T
NM_181313.4:c.451+202C>T	NP_851830.1:n.451+202C>T
NR_024048.3:n.904+79C>T