Canonical Allele Identifier: CA415185099

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648559G>T (hg19) ; chrX:g.154420220G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420220G>T , CM000685.2:g.154420220G>T	GRCh38
NC_000023.10:g.153648559G>T , CM000685.1:g.153648559G>T	GRCh37
NC_000023.9:g.153301753G>T	NCBI36
NG_009634.1:g.13683G>T
NG_009634.2:g.13686G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1465G>T
ENST00000698317.1:n.2081G>T
ENST00000698318.1:n.1864G>T
ENST00000698319.1:n.1227G>T
ENST00000698320.1:n.1115G>T
ENST00000470127.2:n.1128G>T
ENST00000475699.6:c.619G>T	ENSP00000419854.3:p.Asp207Tyr
ENST00000483674.3:n.537G>T
ENST00000601016.6:c.655G>T MANE Select	ENSP00000469981.1:p.Asp219Tyr
ENST00000612012.5:c.613G>T	ENSP00000482070.2:p.Asp205Tyr
ENST00000612460.5:c.565G>T	ENSP00000481037.1:p.Asp189Tyr
ENST00000614595.2:n.2002G>T
ENST00000615658.5:n.1244G>T
ENST00000616020.5:c.667G>T	ENSP00000483636.2:p.Asp223Tyr
ENST00000617701.5:c.*668G>T	ENSP00000481645.1:n.*668G>T
ENST00000652354.1:c.337G>T	ENSP00000498734.1:p.Asp113Tyr
ENST00000652358.1:c.448G>T	ENSP00000498464.1:p.Asp150Tyr
ENST00000652390.1:c.574G>T	ENSP00000498858.1:p.Asp192Tyr
ENST00000652476.1:n.1321G>T
ENST00000652644.1:c.268G>T	ENSP00000498496.1:p.Asp90Tyr
ENST00000652682.1:c.712G>T	ENSP00000498288.1:p.Asp238Tyr
ENST00000652685.1:n.1008G>T
ENST00000369776.8:c.565G>T	ENSP00000358791.4:p.Asp189Tyr
ENST00000426231.5:c.652G>T
ENST00000475699.5:c.613G>T	ENSP00000419854.2:p.Asp205Tyr
ENST00000494912.5:n.1344G>T
ENST00000498029.1:n.113G>T
ENST00000601016.5:c.655G>T	ENSP00000469981.1:p.Asp219Tyr
ENST00000612460.4:c.565G>T	ENSP00000481037.1:p.Asp189Tyr
ENST00000613002.4:c.523G>T	ENSP00000478154.1:p.Asp175Tyr
ENST00000615986.4:c.*383G>T	ENSP00000480133.1:n.*383G>T
NM_000116.4:c.655G>T	NP_000107.1:p.Asp219Tyr
NM_001303465.1:c.667G>T	NP_001290394.1:p.Asp223Tyr
NM_181311.3:c.565G>T	NP_851828.1:p.Asp189Tyr
NM_181312.3:c.613G>T	NP_851829.1:p.Asp205Tyr
NM_181313.3:c.523G>T	NP_851830.1:p.Asp175Tyr
NR_024048.2:n.997G>T
XM_006724836.1:c.709G>T	XP_006724899.1:p.Asp237Tyr
XM_006724837.1:c.694G>T	XP_006724900.1:p.Asp232Tyr
XM_006724839.1:c.577G>T	XP_006724902.1:p.Asp193Tyr
XM_006724841.2:c.448G>T	XP_006724904.1:p.Asp150Tyr
XM_006724842.2:c.358G>T	XP_006724905.1:p.Asp120Tyr
XM_011531189.1:c.496G>T	XP_011529491.1:p.Asp166Tyr
XM_011531190.1:c.448G>T	XP_011529492.1:p.Asp150Tyr
XM_011531191.1:c.379G>T	XP_011529493.1:p.Asp127Tyr
XM_011531192.1:c.376G>T	XP_011529494.1:p.Asp126Tyr
XR_938511.1:n.1003G>T
XM_006724841.4:c.448G>T	XP_006724904.1:p.Asp150Tyr
XM_006724842.4:c.358G>T	XP_006724905.1:p.Asp120Tyr
XM_011531191.2:c.379G>T	XP_011529493.1:p.Asp127Tyr
XM_017029761.1:c.640G>T	XP_016885250.1:p.Asp214Tyr
XM_017029762.1:c.619G>T	XP_016885251.1:p.Asp207Tyr
XM_017029763.1:c.442G>T	XP_016885252.1:p.Asp148Tyr
XM_017029764.1:c.376G>T	XP_016885253.1:p.Asp126Tyr
XM_017029765.2:c.316G>T	XP_016885254.1:p.Asp106Tyr
XM_024452431.1:c.613G>T	XP_024308199.1:p.Asp205Tyr
NM_000116.5:c.655G>T MANE Select	NP_000107.1:p.Asp219Tyr
NM_001303465.2:c.667G>T	NP_001290394.1:p.Asp223Tyr
NM_181311.4:c.565G>T	NP_851828.1:p.Asp189Tyr
NM_181312.4:c.613G>T	NP_851829.1:p.Asp205Tyr
NM_181313.4:c.523G>T	NP_851830.1:p.Asp175Tyr
NR_024048.3:n.976G>T