Canonical Allele Identifier: CA519277524

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641825T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413488T>C , CM000685.2:g.154413488T>C	GRCh38
NC_000023.10:g.153641825T>C , CM000685.1:g.153641825T>C	GRCh37
NC_000023.9:g.153295019T>C	NCBI36
NG_009634.1:g.6949T>C
NG_012884.2:g.3601A>G
NG_009634.2:g.6954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.825T>C
ENST00000698235.1:n.365T>C
ENST00000698317.1:n.1351T>C
ENST00000698318.1:n.1224T>C
ENST00000470127.2:n.569T>C
ENST00000475699.6:c.345T>C	ENSP00000419854.3:p.Pro115=
ENST00000476800.2:n.1477T>C
ENST00000483674.3:n.182T>C
ENST00000601016.6:c.291T>C MANE Select	ENSP00000469981.1:p.Pro97=
ENST00000612012.5:c.291T>C	ENSP00000482070.2:p.Pro97=
ENST00000612460.5:c.291T>C	ENSP00000481037.1:p.Pro97=
ENST00000614595.2:n.1728T>C
ENST00000615658.5:n.604T>C
ENST00000616020.5:c.345T>C	ENSP00000483636.2:p.Pro115=
ENST00000617701.5:c.*109T>C	ENSP00000481645.1:n.*109T>C
ENST00000621647.2:n.573T>C
ENST00000652354.1:c.15T>C	ENSP00000498734.1:p.Pro5=
ENST00000652358.1:c.84T>C	ENSP00000498464.1:p.Pro28=
ENST00000652390.1:c.210T>C	ENSP00000498858.1:p.Pro70=
ENST00000652476.1:n.681T>C
ENST00000652682.1:c.291T>C	ENSP00000498288.1:p.Pro97=
ENST00000652685.1:n.449T>C
ENST00000369776.8:c.216T>C	ENSP00000358791.4:p.Pro72=
ENST00000426231.5:c.207T>C
ENST00000439735.2:c.291T>C	ENSP00000398193.1:p.Pro97=
ENST00000475699.5:c.291T>C	ENSP00000419854.2:p.Pro97=
ENST00000476679.5:n.204T>C
ENST00000476800.1:n.398T>C
ENST00000479875.1:n.320T>C
ENST00000483780.5:n.65T>C
ENST00000601016.5:c.291T>C	ENSP00000469981.1:p.Pro97=
ENST00000612012.4:c.345T>C	ENSP00000482070.1:p.Pro115=
ENST00000612460.4:c.291T>C	ENSP00000481037.1:p.Pro97=
ENST00000613002.4:c.291T>C	ENSP00000478154.1:p.Pro97=
ENST00000613634.4:n.611T>C
ENST00000615658.4:n.704T>C
ENST00000615986.4:c.*109T>C	ENSP00000480133.1:n.*109T>C
ENST00000616020.4:c.345T>C	ENSP00000483636.1:p.Pro115=
ENST00000617701.4:c.*121T>C	ENSP00000481645.1:n.*121T>C
ENST00000620808.4:c.*90T>C	ENSP00000479311.1:n.*90T>C
ENST00000621647.1:n.805T>C
NM_000116.4:c.291T>C	NP_000107.1:p.Pro97=
NM_001303465.1:c.345T>C	NP_001290394.1:p.Pro115=
NM_181311.3:c.291T>C	NP_851828.1:p.Pro97=
NM_181312.3:c.291T>C	NP_851829.1:p.Pro97=
NM_181313.3:c.291T>C	NP_851830.1:p.Pro97=
NR_024048.2:n.723T>C
XM_006724836.1:c.345T>C	XP_006724899.1:p.Pro115=
XM_006724837.1:c.345T>C	XP_006724900.1:p.Pro115=
XM_006724839.1:c.345T>C	XP_006724902.1:p.Pro115=
XM_006724841.2:c.84T>C	XP_006724904.1:p.Pro28=
XM_006724842.2:c.84T>C	XP_006724905.1:p.Pro28=
XM_011531189.1:c.345T>C	XP_011529491.1:p.Pro115=
XM_011531190.1:c.84T>C	XP_011529492.1:p.Pro28=
XM_011531191.1:c.15T>C	XP_011529493.1:p.Pro5=
XM_011531192.1:c.12T>C	XP_011529494.1:p.Pro4=
XR_938511.1:n.648T>C
XM_006724841.4:c.84T>C	XP_006724904.1:p.Pro28=
XM_006724842.4:c.84T>C	XP_006724905.1:p.Pro28=
XM_011531191.2:c.15T>C	XP_011529493.1:p.Pro5=
XM_017029761.1:c.291T>C	XP_016885250.1:p.Pro97=
XM_017029762.1:c.345T>C	XP_016885251.1:p.Pro115=
XM_017029763.1:c.291T>C	XP_016885252.1:p.Pro97=
XM_017029764.1:c.12T>C	XP_016885253.1:p.Pro4=
XM_017029765.2:c.84T>C	XP_016885254.1:p.Pro28=
XM_024452431.1:c.345T>C	XP_024308199.1:p.Pro115=
NM_000116.5:c.291T>C MANE Select	NP_000107.1:p.Pro97=
NM_001303465.2:c.345T>C	NP_001290394.1:p.Pro115=
NM_181311.4:c.291T>C	NP_851828.1:p.Pro97=
NM_181312.4:c.291T>C	NP_851829.1:p.Pro97=
NM_181313.4:c.291T>C	NP_851830.1:p.Pro97=
NR_024048.3:n.702T>C