Canonical Allele Identifier: CA415184406

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 504385
• ClinVar RCV Id: RCV000598838
• dbSNP Id: rs1557194077
• MyVariant Identifiers: chrX:g.153648426G>A (hg19) ; chrX:g.154420087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420087G>A , CM000685.2:g.154420087G>A	GRCh38
NC_000023.10:g.153648426G>A , CM000685.1:g.153648426G>A	GRCh37
NC_000023.9:g.153301620G>A	NCBI36
NG_009634.1:g.13550G>A
NG_009634.2:g.13553G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1449G>A
ENST00000698317.1:n.2065G>A
ENST00000698318.1:n.1848G>A
ENST00000698319.1:n.1211G>A
ENST00000698320.1:n.1099G>A
ENST00000470127.2:n.1112G>A
ENST00000475699.6:c.603G>A	ENSP00000419854.3:p.Trp201Ter
ENST00000483674.3:n.521G>A
ENST00000601016.6:c.639G>A MANE Select	ENSP00000469981.1:p.Trp213Ter
ENST00000612012.5:c.597G>A	ENSP00000482070.2:p.Trp199Ter
ENST00000612460.5:c.549G>A	ENSP00000481037.1:p.Trp183Ter
ENST00000614595.2:n.1986G>A
ENST00000615658.5:n.1228G>A
ENST00000616020.5:c.651G>A	ENSP00000483636.2:p.Trp217Ter
ENST00000617701.5:c.*652G>A	ENSP00000481645.1:n.*652G>A
ENST00000652354.1:c.321G>A	ENSP00000498734.1:p.Trp107Ter
ENST00000652358.1:c.432G>A	ENSP00000498464.1:p.Trp144Ter
ENST00000652390.1:c.558G>A	ENSP00000498858.1:p.Trp186Ter
ENST00000652476.1:n.1305G>A
ENST00000652644.1:c.252G>A	ENSP00000498496.1:p.Trp84Ter
ENST00000652682.1:c.696G>A	ENSP00000498288.1:p.Trp232Ter
ENST00000652685.1:n.992G>A
ENST00000369776.8:c.432G>A	ENSP00000358791.4:p.Trp144Ter
ENST00000426231.5:c.636G>A
ENST00000439735.2:c.546G>A	ENSP00000398193.1:p.Trp182Ter
ENST00000470127.1:n.218G>A
ENST00000475699.5:c.597G>A	ENSP00000419854.2:p.Trp199Ter
ENST00000494912.5:n.1328G>A
ENST00000498029.1:n.97G>A
ENST00000601016.5:c.639G>A	ENSP00000469981.1:p.Trp213Ter
ENST00000612460.4:c.549G>A	ENSP00000481037.1:p.Trp183Ter
ENST00000613002.4:c.507G>A	ENSP00000478154.1:p.Trp169Ter
ENST00000615986.4:c.*367G>A	ENSP00000480133.1:n.*367G>A
NM_000116.4:c.639G>A	NP_000107.1:p.Trp213Ter
NM_001303465.1:c.651G>A	NP_001290394.1:p.Trp217Ter
NM_181311.3:c.549G>A	NP_851828.1:p.Trp183Ter
NM_181312.3:c.597G>A	NP_851829.1:p.Trp199Ter
NM_181313.3:c.507G>A	NP_851830.1:p.Trp169Ter
NR_024048.2:n.981G>A
XM_006724836.1:c.693G>A	XP_006724899.1:p.Trp231Ter
XM_006724837.1:c.561G>A	XP_006724900.1:p.Trp187Ter
XM_006724839.1:c.561G>A	XP_006724902.1:p.Trp187Ter
XM_006724841.2:c.432G>A	XP_006724904.1:p.Trp144Ter
XM_006724842.2:c.342G>A	XP_006724905.1:p.Trp114Ter
XM_011531189.1:c.480G>A	XP_011529491.1:p.Trp160Ter
XM_011531190.1:c.432G>A	XP_011529492.1:p.Trp144Ter
XM_011531191.1:c.363G>A	XP_011529493.1:p.Trp121Ter
XM_011531192.1:c.360G>A	XP_011529494.1:p.Trp120Ter
XR_938511.1:n.987G>A
XM_006724841.4:c.432G>A	XP_006724904.1:p.Trp144Ter
XM_006724842.4:c.342G>A	XP_006724905.1:p.Trp114Ter
XM_011531191.2:c.363G>A	XP_011529493.1:p.Trp121Ter
XM_017029761.1:c.507G>A	XP_016885250.1:p.Trp169Ter
XM_017029762.1:c.603G>A	XP_016885251.1:p.Trp201Ter
XM_017029763.1:c.426G>A	XP_016885252.1:p.Trp142Ter
XM_017029764.1:c.360G>A	XP_016885253.1:p.Trp120Ter
XM_017029765.2:c.300G>A	XP_016885254.1:p.Trp100Ter
XM_024452431.1:c.480G>A	XP_024308199.1:p.Trp160Ter
NM_000116.5:c.639G>A MANE Select	NP_000107.1:p.Trp213Ter
NM_001303465.2:c.651G>A	NP_001290394.1:p.Trp217Ter
NM_181311.4:c.549G>A	NP_851828.1:p.Trp183Ter
NM_181312.4:c.597G>A	NP_851829.1:p.Trp199Ter
NM_181313.4:c.507G>A	NP_851830.1:p.Trp169Ter
NR_024048.3:n.960G>A