Canonical Allele Identifier: CA519277547

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068386717
• gnomAD v3: X-154413509-C-T
• gnomAD v4: X-154413509-C-T
• MyVariant Identifiers: chrX:g.153641846C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.846C>T
ENST00000698235.1:n.386C>T
ENST00000698317.1:n.1372C>T
ENST00000698318.1:n.1245C>T
ENST00000470127.2:n.590C>T
ENST00000475699.6:c.366C>T	ENSP00000419854.3:p.Phe122=
ENST00000476800.2:n.1498C>T
ENST00000483674.3:n.203C>T
ENST00000601016.6:c.312C>T MANE Select	ENSP00000469981.1:p.Phe104=
ENST00000612012.5:c.312C>T	ENSP00000482070.2:p.Phe104=
ENST00000612460.5:c.312C>T	ENSP00000481037.1:p.Phe104=
ENST00000614595.2:n.1749C>T
ENST00000615658.5:n.625C>T
ENST00000616020.5:c.366C>T	ENSP00000483636.2:p.Phe122=
ENST00000617701.5:c.*130C>T	ENSP00000481645.1:n.*130C>T
ENST00000621647.2:n.594C>T
ENST00000652354.1:c.36C>T	ENSP00000498734.1:p.Phe12=
ENST00000652358.1:c.105C>T	ENSP00000498464.1:p.Phe35=
ENST00000652390.1:c.231C>T	ENSP00000498858.1:p.Phe77=
ENST00000652476.1:n.702C>T
ENST00000652682.1:c.312C>T	ENSP00000498288.1:p.Phe104=
ENST00000652685.1:n.470C>T
ENST00000369776.8:c.237C>T	ENSP00000358791.4:p.Phe79=
ENST00000426231.5:c.228C>T
ENST00000439735.2:c.312C>T	ENSP00000398193.1:p.Phe104=
ENST00000475699.5:c.312C>T	ENSP00000419854.2:p.Phe104=
ENST00000476679.5:n.225C>T
ENST00000476800.1:n.419C>T
ENST00000479875.1:n.341C>T
ENST00000483674.2:n.21C>T
ENST00000483780.5:n.86C>T
ENST00000601016.5:c.312C>T	ENSP00000469981.1:p.Phe104=
ENST00000612012.4:c.366C>T	ENSP00000482070.1:p.Phe122=
ENST00000612460.4:c.312C>T	ENSP00000481037.1:p.Phe104=
ENST00000613002.4:c.312C>T	ENSP00000478154.1:p.Phe104=
ENST00000613634.4:n.632C>T
ENST00000615658.4:n.725C>T
ENST00000615986.4:c.*130C>T	ENSP00000480133.1:n.*130C>T
ENST00000616020.4:c.366C>T	ENSP00000483636.1:p.Phe122=
ENST00000617701.4:c.*142C>T	ENSP00000481645.1:n.*142C>T
ENST00000620808.4:c.*111C>T	ENSP00000479311.1:n.*111C>T
ENST00000621647.1:n.826C>T
NM_000116.4:c.312C>T	NP_000107.1:p.Phe104=
NM_001303465.1:c.366C>T	NP_001290394.1:p.Phe122=
NM_181311.3:c.312C>T	NP_851828.1:p.Phe104=
NM_181312.3:c.312C>T	NP_851829.1:p.Phe104=
NM_181313.3:c.312C>T	NP_851830.1:p.Phe104=
NR_024048.2:n.744C>T
XM_006724836.1:c.366C>T	XP_006724899.1:p.Phe122=
XM_006724837.1:c.366C>T	XP_006724900.1:p.Phe122=
XM_006724839.1:c.366C>T	XP_006724902.1:p.Phe122=
XM_006724841.2:c.105C>T	XP_006724904.1:p.Phe35=
XM_006724842.2:c.105C>T	XP_006724905.1:p.Phe35=
XM_011531189.1:c.366C>T	XP_011529491.1:p.Phe122=
XM_011531190.1:c.105C>T	XP_011529492.1:p.Phe35=
XM_011531191.1:c.36C>T	XP_011529493.1:p.Phe12=
XM_011531192.1:c.33C>T	XP_011529494.1:p.Phe11=
XR_938511.1:n.669C>T
XM_006724841.4:c.105C>T	XP_006724904.1:p.Phe35=
XM_006724842.4:c.105C>T	XP_006724905.1:p.Phe35=
XM_011531191.2:c.36C>T	XP_011529493.1:p.Phe12=
XM_017029761.1:c.312C>T	XP_016885250.1:p.Phe104=
XM_017029762.1:c.366C>T	XP_016885251.1:p.Phe122=
XM_017029763.1:c.312C>T	XP_016885252.1:p.Phe104=
XM_017029764.1:c.33C>T	XP_016885253.1:p.Phe11=
XM_017029765.2:c.105C>T	XP_016885254.1:p.Phe35=
XM_024452431.1:c.366C>T	XP_024308199.1:p.Phe122=
NM_000116.5:c.312C>T MANE Select	NP_000107.1:p.Phe104=
NM_001303465.2:c.366C>T	NP_001290394.1:p.Phe122=
NM_181311.4:c.312C>T	NP_851828.1:p.Phe104=
NM_181312.4:c.312C>T	NP_851829.1:p.Phe104=
NM_181313.4:c.312C>T	NP_851830.1:p.Phe104=
NR_024048.3:n.723C>T