Canonical Allele Identifier: CA873319342

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 3023589
• ClinVar RCV Id: RCV003880684
• dbSNP Id: rs1482907625
• gnomAD v3: X-154420755-C-T
• gnomAD v4: X-154420755-C-T
• MyVariant Identifiers: chrX:g.154420755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420755C>T , CM000685.2:g.154420755C>T	GRCh38
NC_000023.10:g.153649094C>T , CM000685.1:g.153649094C>T	GRCh37
NC_000023.9:g.153302288C>T	NCBI36
NG_009634.1:g.14218C>T
NG_009634.2:g.14221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1587+20C>T
ENST00000698317.1:n.2203+20C>T
ENST00000698318.1:n.1986+20C>T
ENST00000698319.1:n.1349+20C>T
ENST00000698320.1:n.1257C>T
ENST00000470127.2:n.1250+20C>T
ENST00000475699.6:c.741+20C>T	ENSP00000419854.3:n.741+20C>T
ENST00000483674.3:n.659+20C>T
ENST00000601016.6:c.777+20C>T MANE Select	ENSP00000469981.1:n.777+20C>T
ENST00000612012.5:c.735+20C>T	ENSP00000482070.2:n.735+20C>T
ENST00000612460.5:c.687+20C>T	ENSP00000481037.1:n.687+20C>T
ENST00000614595.2:n.2124+20C>T
ENST00000615658.5:n.1366+20C>T
ENST00000616020.5:c.789+20C>T	ENSP00000483636.2:n.789+20C>T
ENST00000617701.5:c.*790+20C>T	ENSP00000481645.1:n.*790+20C>T
ENST00000651139.1:c.-7+20C>T	ENSP00000498957.1:n.-7+20C>T
ENST00000652354.1:c.459+20C>T	ENSP00000498734.1:n.459+20C>T
ENST00000652358.1:c.570+20C>T	ENSP00000498464.1:n.570+20C>T
ENST00000652390.1:c.696+20C>T	ENSP00000498858.1:n.696+20C>T
ENST00000652476.1:n.1443+20C>T
ENST00000652644.1:c.390+20C>T	ENSP00000498496.1:n.390+20C>T
ENST00000652682.1:c.834+20C>T	ENSP00000498288.1:n.834+20C>T
ENST00000652685.1:n.1130+20C>T
ENST00000369776.8:c.687+20C>T	ENSP00000358791.4:n.687+20C>T
ENST00000426231.5:c.774+20C>T
ENST00000475699.5:c.735+20C>T	ENSP00000419854.2:n.735+20C>T
ENST00000494912.5:n.1466+20C>T
ENST00000498029.1:n.235+20C>T
ENST00000601016.5:c.777+20C>T	ENSP00000469981.1:n.777+20C>T
ENST00000612460.4:c.687+20C>T	ENSP00000481037.1:n.687+20C>T
ENST00000613002.4:c.645+20C>T	ENSP00000478154.1:n.645+20C>T
ENST00000615986.4:c.*505+20C>T	ENSP00000480133.1:n.*505+20C>T
NM_000116.4:c.777+20C>T	NP_000107.1:n.777+20C>T
NM_001303465.1:c.789+20C>T	NP_001290394.1:n.789+20C>T
NM_181311.3:c.687+20C>T	NP_851828.1:n.687+20C>T
NM_181312.3:c.735+20C>T	NP_851829.1:n.735+20C>T
NM_181313.3:c.645+20C>T	NP_851830.1:n.645+20C>T
NR_024048.2:n.1119+20C>T
XM_006724836.1:c.831+20C>T	XP_006724899.1:n.831+20C>T
XM_006724837.1:c.816+20C>T	XP_006724900.1:n.816+20C>T
XM_006724839.1:c.699+20C>T	XP_006724902.1:n.699+20C>T
XM_006724841.2:c.570+20C>T	XP_006724904.1:n.570+20C>T
XM_006724842.2:c.480+20C>T	XP_006724905.1:n.480+20C>T
XM_011531189.1:c.618+20C>T	XP_011529491.1:n.618+20C>T
XM_011531190.1:c.570+20C>T	XP_011529492.1:n.570+20C>T
XM_011531191.1:c.501+20C>T	XP_011529493.1:n.501+20C>T
XM_011531192.1:c.498+20C>T	XP_011529494.1:n.498+20C>T
XR_938511.1:n.1125+20C>T
XM_006724841.4:c.570+20C>T	XP_006724904.1:n.570+20C>T
XM_006724842.4:c.480+20C>T	XP_006724905.1:n.480+20C>T
XM_011531191.2:c.501+20C>T	XP_011529493.1:n.501+20C>T
XM_017029761.1:c.762+20C>T	XP_016885250.1:n.762+20C>T
XM_017029762.1:c.741+20C>T	XP_016885251.1:n.741+20C>T
XM_017029763.1:c.564+20C>T	XP_016885252.1:n.564+20C>T
XM_017029764.1:c.498+20C>T	XP_016885253.1:n.498+20C>T
XM_017029765.2:c.438+20C>T	XP_016885254.1:n.438+20C>T
XM_024452431.1:c.735+20C>T	XP_024308199.1:n.735+20C>T
NM_000116.5:c.777+20C>T MANE Select	NP_000107.1:n.777+20C>T
NM_001303465.2:c.789+20C>T	NP_001290394.1:n.789+20C>T
NM_181311.4:c.687+20C>T	NP_851828.1:n.687+20C>T
NM_181312.4:c.735+20C>T	NP_851829.1:n.735+20C>T
NM_181313.4:c.645+20C>T	NP_851830.1:n.645+20C>T
NR_024048.3:n.1098+20C>T