Canonical Allele Identifier: CA415185537

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2877852
• ClinVar RCV Id: RCV003623630
• dbSNP Id: rs1557194416
• gnomAD v2: X-153649073-C-T
• gnomAD v3: X-154420734-C-T
• gnomAD v4: X-154420734-C-T
• MyVariant Identifiers: chrX:g.153649073C>T (hg19) ; chrX:g.154420734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420734C>T , CM000685.2:g.154420734C>T	GRCh38
NC_000023.10:g.153649073C>T , CM000685.1:g.153649073C>T	GRCh37
NC_000023.9:g.153302267C>T	NCBI36
NG_009634.1:g.14197C>T
NG_009634.2:g.14200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1586C>T
ENST00000698317.1:n.2202C>T
ENST00000698318.1:n.1985C>T
ENST00000698319.1:n.1348C>T
ENST00000698320.1:n.1236C>T
ENST00000470127.2:n.1249C>T
ENST00000475699.6:c.740C>T	ENSP00000419854.3:p.Ala247Val
ENST00000483674.3:n.658C>T
ENST00000601016.6:c.776C>T MANE Select	ENSP00000469981.1:p.Ala259Val
ENST00000612012.5:c.734C>T	ENSP00000482070.2:p.Ala245Val
ENST00000612460.5:c.686C>T	ENSP00000481037.1:p.Ala229Val
ENST00000614595.2:n.2123C>T
ENST00000615658.5:n.1365C>T
ENST00000616020.5:c.788C>T	ENSP00000483636.2:p.Ala263Val
ENST00000617701.5:c.*789C>T	ENSP00000481645.1:n.*789C>T
ENST00000651139.1:c.-8C>T	ENSP00000498957.1:n.-8C>T
ENST00000652354.1:c.458C>T	ENSP00000498734.1:p.Ala153Val
ENST00000652358.1:c.569C>T	ENSP00000498464.1:p.Ala190Val
ENST00000652390.1:c.695C>T	ENSP00000498858.1:p.Ala232Val
ENST00000652476.1:n.1442C>T
ENST00000652644.1:c.389C>T	ENSP00000498496.1:p.Ala130Val
ENST00000652682.1:c.833C>T	ENSP00000498288.1:p.Ala278Val
ENST00000652685.1:n.1129C>T
ENST00000369776.8:c.686C>T	ENSP00000358791.4:p.Ala229Val
ENST00000426231.5:c.773C>T
ENST00000475699.5:c.734C>T	ENSP00000419854.2:p.Ala245Val
ENST00000494912.5:n.1465C>T
ENST00000498029.1:n.234C>T
ENST00000601016.5:c.776C>T	ENSP00000469981.1:p.Ala259Val
ENST00000612460.4:c.686C>T	ENSP00000481037.1:p.Ala229Val
ENST00000613002.4:c.644C>T	ENSP00000478154.1:p.Ala215Val
ENST00000615986.4:c.*504C>T	ENSP00000480133.1:n.*504C>T
NM_000116.4:c.776C>T	NP_000107.1:p.Ala259Val
NM_001303465.1:c.788C>T	NP_001290394.1:p.Ala263Val
NM_181311.3:c.686C>T	NP_851828.1:p.Ala229Val
NM_181312.3:c.734C>T	NP_851829.1:p.Ala245Val
NM_181313.3:c.644C>T	NP_851830.1:p.Ala215Val
NR_024048.2:n.1118C>T
XM_006724836.1:c.830C>T	XP_006724899.1:p.Ala277Val
XM_006724837.1:c.815C>T	XP_006724900.1:p.Ala272Val
XM_006724839.1:c.698C>T	XP_006724902.1:p.Ala233Val
XM_006724841.2:c.569C>T	XP_006724904.1:p.Ala190Val
XM_006724842.2:c.479C>T	XP_006724905.1:p.Ala160Val
XM_011531189.1:c.617C>T	XP_011529491.1:p.Ala206Val
XM_011531190.1:c.569C>T	XP_011529492.1:p.Ala190Val
XM_011531191.1:c.500C>T	XP_011529493.1:p.Ala167Val
XM_011531192.1:c.497C>T	XP_011529494.1:p.Ala166Val
XR_938511.1:n.1124C>T
XM_006724841.4:c.569C>T	XP_006724904.1:p.Ala190Val
XM_006724842.4:c.479C>T	XP_006724905.1:p.Ala160Val
XM_011531191.2:c.500C>T	XP_011529493.1:p.Ala167Val
XM_017029761.1:c.761C>T	XP_016885250.1:p.Ala254Val
XM_017029762.1:c.740C>T	XP_016885251.1:p.Ala247Val
XM_017029763.1:c.563C>T	XP_016885252.1:p.Ala188Val
XM_017029764.1:c.497C>T	XP_016885253.1:p.Ala166Val
XM_017029765.2:c.437C>T	XP_016885254.1:p.Ala146Val
XM_024452431.1:c.734C>T	XP_024308199.1:p.Ala245Val
NM_000116.5:c.776C>T MANE Select	NP_000107.1:p.Ala259Val
NM_001303465.2:c.788C>T	NP_001290394.1:p.Ala263Val
NM_181311.4:c.686C>T	NP_851828.1:p.Ala229Val
NM_181312.4:c.734C>T	NP_851829.1:p.Ala245Val
NM_181313.4:c.644C>T	NP_851830.1:p.Ala215Val
NR_024048.3:n.1097C>T