Canonical Allele Identifier: CA415181100

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641846C>G (hg19) ; chrX:g.154413509C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413509C>G , CM000685.2:g.154413509C>G	GRCh38
NC_000023.10:g.153641846C>G , CM000685.1:g.153641846C>G	GRCh37
NC_000023.9:g.153295040C>G	NCBI36
NG_009634.1:g.6970C>G
NG_012884.2:g.3580G>C
NG_009634.2:g.6975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.846C>G
ENST00000698235.1:n.386C>G
ENST00000698317.1:n.1372C>G
ENST00000698318.1:n.1245C>G
ENST00000470127.2:n.590C>G
ENST00000475699.6:c.366C>G	ENSP00000419854.3:p.Phe122Leu
ENST00000476800.2:n.1498C>G
ENST00000483674.3:n.203C>G
ENST00000601016.6:c.312C>G MANE Select	ENSP00000469981.1:p.Phe104Leu
ENST00000612012.5:c.312C>G	ENSP00000482070.2:p.Phe104Leu
ENST00000612460.5:c.312C>G	ENSP00000481037.1:p.Phe104Leu
ENST00000614595.2:n.1749C>G
ENST00000615658.5:n.625C>G
ENST00000616020.5:c.366C>G	ENSP00000483636.2:p.Phe122Leu
ENST00000617701.5:c.*130C>G	ENSP00000481645.1:n.*130C>G
ENST00000621647.2:n.594C>G
ENST00000652354.1:c.36C>G	ENSP00000498734.1:p.Phe12Leu
ENST00000652358.1:c.105C>G	ENSP00000498464.1:p.Phe35Leu
ENST00000652390.1:c.231C>G	ENSP00000498858.1:p.Phe77Leu
ENST00000652476.1:n.702C>G
ENST00000652682.1:c.312C>G	ENSP00000498288.1:p.Phe104Leu
ENST00000652685.1:n.470C>G
ENST00000369776.8:c.237C>G	ENSP00000358791.4:p.Phe79Leu
ENST00000426231.5:c.228C>G
ENST00000439735.2:c.312C>G	ENSP00000398193.1:p.Phe104Leu
ENST00000475699.5:c.312C>G	ENSP00000419854.2:p.Phe104Leu
ENST00000476679.5:n.225C>G
ENST00000476800.1:n.419C>G
ENST00000479875.1:n.341C>G
ENST00000483674.2:n.21C>G
ENST00000483780.5:n.86C>G
ENST00000601016.5:c.312C>G	ENSP00000469981.1:p.Phe104Leu
ENST00000612012.4:c.366C>G	ENSP00000482070.1:p.Phe122Leu
ENST00000612460.4:c.312C>G	ENSP00000481037.1:p.Phe104Leu
ENST00000613002.4:c.312C>G	ENSP00000478154.1:p.Phe104Leu
ENST00000613634.4:n.632C>G
ENST00000615658.4:n.725C>G
ENST00000615986.4:c.*130C>G	ENSP00000480133.1:n.*130C>G
ENST00000616020.4:c.366C>G	ENSP00000483636.1:p.Phe122Leu
ENST00000617701.4:c.*142C>G	ENSP00000481645.1:n.*142C>G
ENST00000620808.4:c.*111C>G	ENSP00000479311.1:n.*111C>G
ENST00000621647.1:n.826C>G
NM_000116.4:c.312C>G	NP_000107.1:p.Phe104Leu
NM_001303465.1:c.366C>G	NP_001290394.1:p.Phe122Leu
NM_181311.3:c.312C>G	NP_851828.1:p.Phe104Leu
NM_181312.3:c.312C>G	NP_851829.1:p.Phe104Leu
NM_181313.3:c.312C>G	NP_851830.1:p.Phe104Leu
NR_024048.2:n.744C>G
XM_006724836.1:c.366C>G	XP_006724899.1:p.Phe122Leu
XM_006724837.1:c.366C>G	XP_006724900.1:p.Phe122Leu
XM_006724839.1:c.366C>G	XP_006724902.1:p.Phe122Leu
XM_006724841.2:c.105C>G	XP_006724904.1:p.Phe35Leu
XM_006724842.2:c.105C>G	XP_006724905.1:p.Phe35Leu
XM_011531189.1:c.366C>G	XP_011529491.1:p.Phe122Leu
XM_011531190.1:c.105C>G	XP_011529492.1:p.Phe35Leu
XM_011531191.1:c.36C>G	XP_011529493.1:p.Phe12Leu
XM_011531192.1:c.33C>G	XP_011529494.1:p.Phe11Leu
XR_938511.1:n.669C>G
XM_006724841.4:c.105C>G	XP_006724904.1:p.Phe35Leu
XM_006724842.4:c.105C>G	XP_006724905.1:p.Phe35Leu
XM_011531191.2:c.36C>G	XP_011529493.1:p.Phe12Leu
XM_017029761.1:c.312C>G	XP_016885250.1:p.Phe104Leu
XM_017029762.1:c.366C>G	XP_016885251.1:p.Phe122Leu
XM_017029763.1:c.312C>G	XP_016885252.1:p.Phe104Leu
XM_017029764.1:c.33C>G	XP_016885253.1:p.Phe11Leu
XM_017029765.2:c.105C>G	XP_016885254.1:p.Phe35Leu
XM_024452431.1:c.366C>G	XP_024308199.1:p.Phe122Leu
NM_000116.5:c.312C>G MANE Select	NP_000107.1:p.Phe104Leu
NM_001303465.2:c.366C>G	NP_001290394.1:p.Phe122Leu
NM_181311.4:c.312C>G	NP_851828.1:p.Phe104Leu
NM_181312.4:c.312C>G	NP_851829.1:p.Phe104Leu
NM_181313.4:c.312C>G	NP_851830.1:p.Phe104Leu
NR_024048.3:n.723C>G