Canonical Allele Identifier: CA10562412

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2169092
• ClinVar RCV Id: RCV003082900
• dbSNP Id: rs781816017
• ExAC: X:153648594 C / A
• gnomAD v2: X-153648594-C-A
• gnomAD v3: X-154420255-C-A
• gnomAD v4: X-154420255-C-A
• MyVariant Identifiers: chrX:g.153648594C>A (hg19) ; chrX:g.154420255C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420255C>A , CM000685.2:g.154420255C>A	GRCh38
NC_000023.10:g.153648594C>A , CM000685.1:g.153648594C>A	GRCh37
NC_000023.9:g.153301788C>A	NCBI36
NG_009634.1:g.13718C>A
NG_009634.2:g.13721C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1500C>A
ENST00000698317.1:n.2116C>A
ENST00000698318.1:n.1899C>A
ENST00000698319.1:n.1262C>A
ENST00000698320.1:n.1150C>A
ENST00000470127.2:n.1163C>A
ENST00000475699.6:c.654C>A	ENSP00000419854.3:p.Arg218=
ENST00000483674.3:n.572C>A
ENST00000601016.6:c.690C>A MANE Select	ENSP00000469981.1:p.Arg230=
ENST00000612012.5:c.648C>A	ENSP00000482070.2:p.Arg216=
ENST00000612460.5:c.600C>A	ENSP00000481037.1:p.Arg200=
ENST00000614595.2:n.2037C>A
ENST00000615658.5:n.1279C>A
ENST00000616020.5:c.702C>A	ENSP00000483636.2:p.Arg234=
ENST00000617701.5:c.*703C>A	ENSP00000481645.1:n.*703C>A
ENST00000652354.1:c.372C>A	ENSP00000498734.1:p.Arg124=
ENST00000652358.1:c.483C>A	ENSP00000498464.1:p.Arg161=
ENST00000652390.1:c.609C>A	ENSP00000498858.1:p.Arg203=
ENST00000652476.1:n.1356C>A
ENST00000652644.1:c.303C>A	ENSP00000498496.1:p.Arg101=
ENST00000652682.1:c.747C>A	ENSP00000498288.1:p.Arg249=
ENST00000652685.1:n.1043C>A
ENST00000369776.8:c.600C>A	ENSP00000358791.4:p.Arg200=
ENST00000426231.5:c.687C>A
ENST00000475699.5:c.648C>A	ENSP00000419854.2:p.Arg216=
ENST00000494912.5:n.1379C>A
ENST00000498029.1:n.148C>A
ENST00000601016.5:c.690C>A	ENSP00000469981.1:p.Arg230=
ENST00000612460.4:c.600C>A	ENSP00000481037.1:p.Arg200=
ENST00000613002.4:c.558C>A	ENSP00000478154.1:p.Arg186=
ENST00000615986.4:c.*418C>A	ENSP00000480133.1:n.*418C>A
NM_000116.4:c.690C>A	NP_000107.1:p.Arg230=
NM_001303465.1:c.702C>A	NP_001290394.1:p.Arg234=
NM_181311.3:c.600C>A	NP_851828.1:p.Arg200=
NM_181312.3:c.648C>A	NP_851829.1:p.Arg216=
NM_181313.3:c.558C>A	NP_851830.1:p.Arg186=
NR_024048.2:n.1032C>A
XM_006724836.1:c.744C>A	XP_006724899.1:p.Arg248=
XM_006724837.1:c.729C>A	XP_006724900.1:p.Arg243=
XM_006724839.1:c.612C>A	XP_006724902.1:p.Arg204=
XM_006724841.2:c.483C>A	XP_006724904.1:p.Arg161=
XM_006724842.2:c.393C>A	XP_006724905.1:p.Arg131=
XM_011531189.1:c.531C>A	XP_011529491.1:p.Arg177=
XM_011531190.1:c.483C>A	XP_011529492.1:p.Arg161=
XM_011531191.1:c.414C>A	XP_011529493.1:p.Arg138=
XM_011531192.1:c.411C>A	XP_011529494.1:p.Arg137=
XR_938511.1:n.1038C>A
XM_006724841.4:c.483C>A	XP_006724904.1:p.Arg161=
XM_006724842.4:c.393C>A	XP_006724905.1:p.Arg131=
XM_011531191.2:c.414C>A	XP_011529493.1:p.Arg138=
XM_017029761.1:c.675C>A	XP_016885250.1:p.Arg225=
XM_017029762.1:c.654C>A	XP_016885251.1:p.Arg218=
XM_017029763.1:c.477C>A	XP_016885252.1:p.Arg159=
XM_017029764.1:c.411C>A	XP_016885253.1:p.Arg137=
XM_017029765.2:c.351C>A	XP_016885254.1:p.Arg117=
XM_024452431.1:c.648C>A	XP_024308199.1:p.Arg216=
NM_000116.5:c.690C>A MANE Select	NP_000107.1:p.Arg230=
NM_001303465.2:c.702C>A	NP_001290394.1:p.Arg234=
NM_181311.4:c.600C>A	NP_851828.1:p.Arg200=
NM_181312.4:c.648C>A	NP_851829.1:p.Arg216=
NM_181313.4:c.558C>A	NP_851830.1:p.Arg186=
NR_024048.3:n.1011C>A