Canonical Allele Identifier: CA415181795

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2883575
• ClinVar RCV Id: RCV003623704
• MyVariant Identifiers: chrX:g.153641856C>A (hg19) ; chrX:g.154413519C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413519C>A , CM000685.2:g.154413519C>A	GRCh38
NC_000023.10:g.153641856C>A , CM000685.1:g.153641856C>A	GRCh37
NC_000023.9:g.153295050C>A	NCBI36
NG_009634.1:g.6980C>A
NG_012884.2:g.3570G>T
NG_009634.2:g.6985C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.856C>A
ENST00000698235.1:n.396C>A
ENST00000698317.1:n.1382C>A
ENST00000698318.1:n.1255C>A
ENST00000470127.2:n.600C>A
ENST00000475699.6:c.376C>A	ENSP00000419854.3:p.Leu126Ile
ENST00000476800.2:n.1508C>A
ENST00000483674.3:n.213C>A
ENST00000601016.6:c.322C>A MANE Select	ENSP00000469981.1:p.Leu108Ile
ENST00000612012.5:c.322C>A	ENSP00000482070.2:p.Leu108Ile
ENST00000612460.5:c.322C>A	ENSP00000481037.1:p.Leu108Ile
ENST00000614595.2:n.1759C>A
ENST00000615658.5:n.635C>A
ENST00000616020.5:c.376C>A	ENSP00000483636.2:p.Leu126Ile
ENST00000617701.5:c.*140C>A	ENSP00000481645.1:n.*140C>A
ENST00000621647.2:n.604C>A
ENST00000652354.1:c.46C>A	ENSP00000498734.1:p.Leu16Ile
ENST00000652358.1:c.115C>A	ENSP00000498464.1:p.Leu39Ile
ENST00000652390.1:c.241C>A	ENSP00000498858.1:p.Leu81Ile
ENST00000652476.1:n.712C>A
ENST00000652682.1:c.322C>A	ENSP00000498288.1:p.Leu108Ile
ENST00000652685.1:n.480C>A
ENST00000369776.8:c.247C>A	ENSP00000358791.4:p.Leu83Ile
ENST00000426231.5:c.238C>A
ENST00000439735.2:c.322C>A	ENSP00000398193.1:p.Leu108Ile
ENST00000475699.5:c.322C>A	ENSP00000419854.2:p.Leu108Ile
ENST00000476679.5:n.235C>A
ENST00000476800.1:n.429C>A
ENST00000479875.1:n.351C>A
ENST00000483674.2:n.31C>A
ENST00000483780.5:n.96C>A
ENST00000601016.5:c.322C>A	ENSP00000469981.1:p.Leu108Ile
ENST00000612012.4:c.376C>A	ENSP00000482070.1:p.Leu126Ile
ENST00000612460.4:c.322C>A	ENSP00000481037.1:p.Leu108Ile
ENST00000613002.4:c.322C>A	ENSP00000478154.1:p.Leu108Ile
ENST00000613634.4:n.642C>A
ENST00000615658.4:n.735C>A
ENST00000615986.4:c.*140C>A	ENSP00000480133.1:n.*140C>A
ENST00000616020.4:c.376C>A	ENSP00000483636.1:p.Leu126Ile
ENST00000617701.4:c.*152C>A	ENSP00000481645.1:n.*152C>A
ENST00000620808.4:c.*121C>A	ENSP00000479311.1:n.*121C>A
ENST00000621647.1:n.836C>A
NM_000116.4:c.322C>A	NP_000107.1:p.Leu108Ile
NM_001303465.1:c.376C>A	NP_001290394.1:p.Leu126Ile
NM_181311.3:c.322C>A	NP_851828.1:p.Leu108Ile
NM_181312.3:c.322C>A	NP_851829.1:p.Leu108Ile
NM_181313.3:c.322C>A	NP_851830.1:p.Leu108Ile
NR_024048.2:n.754C>A
XM_006724836.1:c.376C>A	XP_006724899.1:p.Leu126Ile
XM_006724837.1:c.376C>A	XP_006724900.1:p.Leu126Ile
XM_006724839.1:c.376C>A	XP_006724902.1:p.Leu126Ile
XM_006724841.2:c.115C>A	XP_006724904.1:p.Leu39Ile
XM_006724842.2:c.115C>A	XP_006724905.1:p.Leu39Ile
XM_011531189.1:c.376C>A	XP_011529491.1:p.Leu126Ile
XM_011531190.1:c.115C>A	XP_011529492.1:p.Leu39Ile
XM_011531191.1:c.46C>A	XP_011529493.1:p.Leu16Ile
XM_011531192.1:c.43C>A	XP_011529494.1:p.Leu15Ile
XR_938511.1:n.679C>A
XM_006724841.4:c.115C>A	XP_006724904.1:p.Leu39Ile
XM_006724842.4:c.115C>A	XP_006724905.1:p.Leu39Ile
XM_011531191.2:c.46C>A	XP_011529493.1:p.Leu16Ile
XM_017029761.1:c.322C>A	XP_016885250.1:p.Leu108Ile
XM_017029762.1:c.376C>A	XP_016885251.1:p.Leu126Ile
XM_017029763.1:c.322C>A	XP_016885252.1:p.Leu108Ile
XM_017029764.1:c.43C>A	XP_016885253.1:p.Leu15Ile
XM_017029765.2:c.115C>A	XP_016885254.1:p.Leu39Ile
XM_024452431.1:c.376C>A	XP_024308199.1:p.Leu126Ile
NM_000116.5:c.322C>A MANE Select	NP_000107.1:p.Leu108Ile
NM_001303465.2:c.376C>A	NP_001290394.1:p.Leu126Ile
NM_181311.4:c.322C>A	NP_851828.1:p.Leu108Ile
NM_181312.4:c.322C>A	NP_851829.1:p.Leu108Ile
NM_181313.4:c.322C>A	NP_851830.1:p.Leu108Ile
NR_024048.3:n.733C>A