Canonical Allele Identifier: CA658684336

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 488616
• ClinVar RCV Id: RCV000578250
• dbSNP Id: rs781795144
• MyVariant Identifiers: chrX:g.153648041C>G (hg19) ; chrX:g.154419702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419702C>G , CM000685.2:g.154419702C>G	GRCh38
NC_000023.10:g.153648041C>G , CM000685.1:g.153648041C>G	GRCh37
NC_000023.9:g.153301235C>G	NCBI36
NG_009634.1:g.13165C>G
NG_009634.2:g.13168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1064C>G
ENST00000698317.1:n.1680C>G
ENST00000698318.1:n.1463C>G
ENST00000698319.1:n.826C>G
ENST00000698320.1:n.714C>G
ENST00000470127.2:n.730-3C>G
ENST00000475699.6:c.506-3C>G	ENSP00000419854.3:n.506-3C>G
ENST00000483674.3:n.421C>G
ENST00000601016.6:c.542-3C>G MANE Select	ENSP00000469981.1:n.542-3C>G
ENST00000612012.5:c.541+79C>G	ENSP00000482070.2:n.541+79C>G
ENST00000612460.5:c.452-3C>G	ENSP00000481037.1:n.452-3C>G
ENST00000614595.2:n.1889-3C>G
ENST00000615658.5:n.843C>G
ENST00000616020.5:c.595+79C>G	ENSP00000483636.2:n.595+79C>G
ENST00000617701.5:c.*270-3C>G	ENSP00000481645.1:n.*270-3C>G
ENST00000652354.1:c.265+79C>G	ENSP00000498734.1:n.265+79C>G
ENST00000652358.1:c.335-3C>G	ENSP00000498464.1:n.335-3C>G
ENST00000652390.1:c.461-3C>G	ENSP00000498858.1:n.461-3C>G
ENST00000652476.1:n.920C>G
ENST00000652644.1:c.155-3C>G	ENSP00000498496.1:n.155-3C>G
ENST00000652682.1:c.599-3C>G	ENSP00000498288.1:n.599-3C>G
ENST00000652685.1:n.610-3C>G
ENST00000369776.8:c.376+79C>G	ENSP00000358791.4:n.376+79C>G
ENST00000426231.5:c.536C>G
ENST00000439735.2:c.449-3C>G	ENSP00000398193.1:n.449-3C>G
ENST00000470127.1:n.121-3C>G
ENST00000475699.5:c.541+79C>G	ENSP00000419854.2:n.541+79C>G
ENST00000476679.5:n.533C>G
ENST00000483674.2:n.239C>G
ENST00000483780.5:n.304C>G
ENST00000494912.5:n.1228C>G
ENST00000601016.5:c.542-3C>G	ENSP00000469981.1:n.542-3C>G
ENST00000612012.4:c.506-3C>G	ENSP00000482070.1:n.506-3C>G
ENST00000612460.4:c.452-3C>G	ENSP00000481037.1:n.452-3C>G
ENST00000613002.4:c.451+79C>G	ENSP00000478154.1:n.451+79C>G
ENST00000613634.4:n.772-3C>G
ENST00000615658.4:n.943C>G
ENST00000615986.4:c.*270-3C>G	ENSP00000480133.1:n.*270-3C>G
ENST00000620808.4:c.*170-330C>G	ENSP00000479311.1:n.*170-330C>G
NM_000116.4:c.542-3C>G	NP_000107.1:n.542-3C>G
NM_001303465.1:c.595+79C>G	NP_001290394.1:n.595+79C>G
NM_181311.3:c.452-3C>G	NP_851828.1:n.452-3C>G
NM_181312.3:c.541+79C>G	NP_851829.1:n.541+79C>G
NM_181313.3:c.451+79C>G	NP_851830.1:n.451+79C>G
NR_024048.2:n.884-3C>G
XM_006724836.1:c.596-3C>G	XP_006724899.1:n.596-3C>G
XM_006724837.1:c.505+79C>G	XP_006724900.1:n.505+79C>G
XM_006724839.1:c.505+79C>G	XP_006724902.1:n.505+79C>G
XM_006724841.2:c.335-3C>G	XP_006724904.1:n.335-3C>G
XM_006724842.2:c.245-3C>G	XP_006724905.1:n.245-3C>G
XM_011531189.1:c.425-330C>G	XP_011529491.1:n.425-330C>G
XM_011531190.1:c.335-3C>G	XP_011529492.1:n.335-3C>G
XM_011531191.1:c.266-3C>G	XP_011529493.1:n.266-3C>G
XM_011531192.1:c.263-3C>G	XP_011529494.1:n.263-3C>G
XR_938511.1:n.887C>G
XM_006724841.4:c.335-3C>G	XP_006724904.1:n.335-3C>G
XM_006724842.4:c.245-3C>G	XP_006724905.1:n.245-3C>G
XM_011531191.2:c.266-3C>G	XP_011529493.1:n.266-3C>G
XM_017029761.1:c.451+79C>G	XP_016885250.1:n.451+79C>G
XM_017029762.1:c.506-3C>G	XP_016885251.1:n.506-3C>G
XM_017029763.1:c.371-330C>G	XP_016885252.1:n.371-330C>G
XM_017029764.1:c.263-3C>G	XP_016885253.1:n.263-3C>G
XM_017029765.2:c.244+79C>G	XP_016885254.1:n.244+79C>G
XM_024452431.1:c.425-330C>G	XP_024308199.1:n.425-330C>G
NM_000116.5:c.542-3C>G MANE Select	NP_000107.1:n.542-3C>G
NM_001303465.2:c.595+79C>G	NP_001290394.1:n.595+79C>G
NM_181311.4:c.452-3C>G	NP_851828.1:n.452-3C>G
NM_181312.4:c.541+79C>G	NP_851829.1:n.541+79C>G
NM_181313.4:c.451+79C>G	NP_851830.1:n.451+79C>G
NR_024048.3:n.863-3C>G