Canonical Allele Identifier: CA308805

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 202095
• ClinVar RCV Id: RCV000183910 ; RCV000609126 ; RCV000637295
• dbSNP Id: rs372689133
• ExAC: X:153649048 C / T
• gnomAD v2: X-153649048-C-T
• gnomAD v3: X-154420709-C-T
• gnomAD v4: X-154420709-C-T
• MyVariant Identifiers: chrX:g.153649048C>T (hg19) ; chrX:g.154420709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420709C>T , CM000685.2:g.154420709C>T	GRCh38
NC_000023.10:g.153649048C>T , CM000685.1:g.153649048C>T	GRCh37
NC_000023.9:g.153302242C>T	NCBI36
NG_009634.1:g.14172C>T
NG_009634.2:g.14175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1561C>T
ENST00000698317.1:n.2177C>T
ENST00000698318.1:n.1960C>T
ENST00000698319.1:n.1323C>T
ENST00000698320.1:n.1211C>T
ENST00000470127.2:n.1224C>T
ENST00000475699.6:c.715C>T	ENSP00000419854.3:p.Arg239Trp
ENST00000483674.3:n.633C>T
ENST00000601016.6:c.751C>T MANE Select	ENSP00000469981.1:p.Arg251Trp
ENST00000612012.5:c.709C>T	ENSP00000482070.2:p.Arg237Trp
ENST00000612460.5:c.661C>T	ENSP00000481037.1:p.Arg221Trp
ENST00000614595.2:n.2098C>T
ENST00000615658.5:n.1340C>T
ENST00000616020.5:c.763C>T	ENSP00000483636.2:p.Arg255Trp
ENST00000617701.5:c.*764C>T	ENSP00000481645.1:n.*764C>T
ENST00000651139.1:c.-33C>T	ENSP00000498957.1:n.-33C>T
ENST00000652354.1:c.433C>T	ENSP00000498734.1:p.Arg145Trp
ENST00000652358.1:c.544C>T	ENSP00000498464.1:p.Arg182Trp
ENST00000652390.1:c.670C>T	ENSP00000498858.1:p.Arg224Trp
ENST00000652476.1:n.1417C>T
ENST00000652644.1:c.364C>T	ENSP00000498496.1:p.Arg122Trp
ENST00000652682.1:c.808C>T	ENSP00000498288.1:p.Arg270Trp
ENST00000652685.1:n.1104C>T
ENST00000369776.8:c.661C>T	ENSP00000358791.4:p.Arg221Trp
ENST00000426231.5:c.748C>T
ENST00000475699.5:c.709C>T	ENSP00000419854.2:p.Arg237Trp
ENST00000494912.5:n.1440C>T
ENST00000498029.1:n.209C>T
ENST00000601016.5:c.751C>T	ENSP00000469981.1:p.Arg251Trp
ENST00000612460.4:c.661C>T	ENSP00000481037.1:p.Arg221Trp
ENST00000613002.4:c.619C>T	ENSP00000478154.1:p.Arg207Trp
ENST00000615986.4:c.*479C>T	ENSP00000480133.1:n.*479C>T
NM_000116.4:c.751C>T	NP_000107.1:p.Arg251Trp
NM_001303465.1:c.763C>T	NP_001290394.1:p.Arg255Trp
NM_181311.3:c.661C>T	NP_851828.1:p.Arg221Trp
NM_181312.3:c.709C>T	NP_851829.1:p.Arg237Trp
NM_181313.3:c.619C>T	NP_851830.1:p.Arg207Trp
NR_024048.2:n.1093C>T
XM_006724836.1:c.805C>T	XP_006724899.1:p.Arg269Trp
XM_006724837.1:c.790C>T	XP_006724900.1:p.Arg264Trp
XM_006724839.1:c.673C>T	XP_006724902.1:p.Arg225Trp
XM_006724841.2:c.544C>T	XP_006724904.1:p.Arg182Trp
XM_006724842.2:c.454C>T	XP_006724905.1:p.Arg152Trp
XM_011531189.1:c.592C>T	XP_011529491.1:p.Arg198Trp
XM_011531190.1:c.544C>T	XP_011529492.1:p.Arg182Trp
XM_011531191.1:c.475C>T	XP_011529493.1:p.Arg159Trp
XM_011531192.1:c.472C>T	XP_011529494.1:p.Arg158Trp
XR_938511.1:n.1099C>T
XM_006724841.4:c.544C>T	XP_006724904.1:p.Arg182Trp
XM_006724842.4:c.454C>T	XP_006724905.1:p.Arg152Trp
XM_011531191.2:c.475C>T	XP_011529493.1:p.Arg159Trp
XM_017029761.1:c.736C>T	XP_016885250.1:p.Arg246Trp
XM_017029762.1:c.715C>T	XP_016885251.1:p.Arg239Trp
XM_017029763.1:c.538C>T	XP_016885252.1:p.Arg180Trp
XM_017029764.1:c.472C>T	XP_016885253.1:p.Arg158Trp
XM_017029765.2:c.412C>T	XP_016885254.1:p.Arg138Trp
XM_024452431.1:c.709C>T	XP_024308199.1:p.Arg237Trp
NM_000116.5:c.751C>T MANE Select	NP_000107.1:p.Arg251Trp
NM_001303465.2:c.763C>T	NP_001290394.1:p.Arg255Trp
NM_181311.4:c.661C>T	NP_851828.1:p.Arg221Trp
NM_181312.4:c.709C>T	NP_851829.1:p.Arg237Trp
NM_181313.4:c.619C>T	NP_851830.1:p.Arg207Trp
NR_024048.3:n.1072C>T