Canonical Allele Identifier: CA415185470

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 849303
• ClinVar RCV Id: RCV001053235 ; RCV003482325
• dbSNP Id: rs2068605582
• gnomAD v3: X-154420715-C-T
• gnomAD v4: X-154420715-C-T
• MyVariant Identifiers: chrX:g.153649054C>T (hg19) ; chrX:g.154420715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420715C>T , CM000685.2:g.154420715C>T	GRCh38
NC_000023.10:g.153649054C>T , CM000685.1:g.153649054C>T	GRCh37
NC_000023.9:g.153302248C>T	NCBI36
NG_009634.1:g.14178C>T
NG_009634.2:g.14181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1567C>T
ENST00000698317.1:n.2183C>T
ENST00000698318.1:n.1966C>T
ENST00000698319.1:n.1329C>T
ENST00000698320.1:n.1217C>T
ENST00000470127.2:n.1230C>T
ENST00000475699.6:c.721C>T	ENSP00000419854.3:p.Arg241Trp
ENST00000483674.3:n.639C>T
ENST00000601016.6:c.757C>T MANE Select	ENSP00000469981.1:p.Arg253Trp
ENST00000612012.5:c.715C>T	ENSP00000482070.2:p.Arg239Trp
ENST00000612460.5:c.667C>T	ENSP00000481037.1:p.Arg223Trp
ENST00000614595.2:n.2104C>T
ENST00000615658.5:n.1346C>T
ENST00000616020.5:c.769C>T	ENSP00000483636.2:p.Arg257Trp
ENST00000617701.5:c.*770C>T	ENSP00000481645.1:n.*770C>T
ENST00000651139.1:c.-27C>T	ENSP00000498957.1:n.-27C>T
ENST00000652354.1:c.439C>T	ENSP00000498734.1:p.Arg147Trp
ENST00000652358.1:c.550C>T	ENSP00000498464.1:p.Arg184Trp
ENST00000652390.1:c.676C>T	ENSP00000498858.1:p.Arg226Trp
ENST00000652476.1:n.1423C>T
ENST00000652644.1:c.370C>T	ENSP00000498496.1:p.Arg124Trp
ENST00000652682.1:c.814C>T	ENSP00000498288.1:p.Arg272Trp
ENST00000652685.1:n.1110C>T
ENST00000369776.8:c.667C>T	ENSP00000358791.4:p.Arg223Trp
ENST00000426231.5:c.754C>T
ENST00000475699.5:c.715C>T	ENSP00000419854.2:p.Arg239Trp
ENST00000494912.5:n.1446C>T
ENST00000498029.1:n.215C>T
ENST00000601016.5:c.757C>T	ENSP00000469981.1:p.Arg253Trp
ENST00000612460.4:c.667C>T	ENSP00000481037.1:p.Arg223Trp
ENST00000613002.4:c.625C>T	ENSP00000478154.1:p.Arg209Trp
ENST00000615986.4:c.*485C>T	ENSP00000480133.1:n.*485C>T
NM_000116.4:c.757C>T	NP_000107.1:p.Arg253Trp
NM_001303465.1:c.769C>T	NP_001290394.1:p.Arg257Trp
NM_181311.3:c.667C>T	NP_851828.1:p.Arg223Trp
NM_181312.3:c.715C>T	NP_851829.1:p.Arg239Trp
NM_181313.3:c.625C>T	NP_851830.1:p.Arg209Trp
NR_024048.2:n.1099C>T
XM_006724836.1:c.811C>T	XP_006724899.1:p.Arg271Trp
XM_006724837.1:c.796C>T	XP_006724900.1:p.Arg266Trp
XM_006724839.1:c.679C>T	XP_006724902.1:p.Arg227Trp
XM_006724841.2:c.550C>T	XP_006724904.1:p.Arg184Trp
XM_006724842.2:c.460C>T	XP_006724905.1:p.Arg154Trp
XM_011531189.1:c.598C>T	XP_011529491.1:p.Arg200Trp
XM_011531190.1:c.550C>T	XP_011529492.1:p.Arg184Trp
XM_011531191.1:c.481C>T	XP_011529493.1:p.Arg161Trp
XM_011531192.1:c.478C>T	XP_011529494.1:p.Arg160Trp
XR_938511.1:n.1105C>T
XM_006724841.4:c.550C>T	XP_006724904.1:p.Arg184Trp
XM_006724842.4:c.460C>T	XP_006724905.1:p.Arg154Trp
XM_011531191.2:c.481C>T	XP_011529493.1:p.Arg161Trp
XM_017029761.1:c.742C>T	XP_016885250.1:p.Arg248Trp
XM_017029762.1:c.721C>T	XP_016885251.1:p.Arg241Trp
XM_017029763.1:c.544C>T	XP_016885252.1:p.Arg182Trp
XM_017029764.1:c.478C>T	XP_016885253.1:p.Arg160Trp
XM_017029765.2:c.418C>T	XP_016885254.1:p.Arg140Trp
XM_024452431.1:c.715C>T	XP_024308199.1:p.Arg239Trp
NM_000116.5:c.757C>T MANE Select	NP_000107.1:p.Arg253Trp
NM_001303465.2:c.769C>T	NP_001290394.1:p.Arg257Trp
NM_181311.4:c.667C>T	NP_851828.1:p.Arg223Trp
NM_181312.4:c.715C>T	NP_851829.1:p.Arg239Trp
NM_181313.4:c.625C>T	NP_851830.1:p.Arg209Trp
NR_024048.3:n.1078C>T