Canonical Allele Identifier: CA519278183

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649023C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420684C>A , CM000685.2:g.154420684C>A	GRCh38
NC_000023.10:g.153649023C>A , CM000685.1:g.153649023C>A	GRCh37
NC_000023.9:g.153302217C>A	NCBI36
NG_009634.1:g.14147C>A
NG_009634.2:g.14150C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1536C>A
ENST00000698317.1:n.2152C>A
ENST00000698318.1:n.1935C>A
ENST00000698319.1:n.1298C>A
ENST00000698320.1:n.1186C>A
ENST00000470127.2:n.1199C>A
ENST00000475699.6:c.690C>A	ENSP00000419854.3:p.Pro230=
ENST00000483674.3:n.608C>A
ENST00000601016.6:c.726C>A MANE Select	ENSP00000469981.1:p.Pro242=
ENST00000612012.5:c.684C>A	ENSP00000482070.2:p.Pro228=
ENST00000612460.5:c.636C>A	ENSP00000481037.1:p.Pro212=
ENST00000614595.2:n.2073C>A
ENST00000615658.5:n.1315C>A
ENST00000616020.5:c.738C>A	ENSP00000483636.2:p.Pro246=
ENST00000617701.5:c.*739C>A	ENSP00000481645.1:n.*739C>A
ENST00000651139.1:c.-58C>A	ENSP00000498957.1:n.-58C>A
ENST00000652354.1:c.408C>A	ENSP00000498734.1:p.Pro136=
ENST00000652358.1:c.519C>A	ENSP00000498464.1:p.Pro173=
ENST00000652390.1:c.645C>A	ENSP00000498858.1:p.Pro215=
ENST00000652476.1:n.1392C>A
ENST00000652644.1:c.339C>A	ENSP00000498496.1:p.Pro113=
ENST00000652682.1:c.783C>A	ENSP00000498288.1:p.Pro261=
ENST00000652685.1:n.1079C>A
ENST00000369776.8:c.636C>A	ENSP00000358791.4:p.Pro212=
ENST00000426231.5:c.723C>A
ENST00000475699.5:c.684C>A	ENSP00000419854.2:p.Pro228=
ENST00000494912.5:n.1415C>A
ENST00000498029.1:n.184C>A
ENST00000601016.5:c.726C>A	ENSP00000469981.1:p.Pro242=
ENST00000612460.4:c.636C>A	ENSP00000481037.1:p.Pro212=
ENST00000613002.4:c.594C>A	ENSP00000478154.1:p.Pro198=
ENST00000615986.4:c.*454C>A	ENSP00000480133.1:n.*454C>A
NM_000116.4:c.726C>A	NP_000107.1:p.Pro242=
NM_001303465.1:c.738C>A	NP_001290394.1:p.Pro246=
NM_181311.3:c.636C>A	NP_851828.1:p.Pro212=
NM_181312.3:c.684C>A	NP_851829.1:p.Pro228=
NM_181313.3:c.594C>A	NP_851830.1:p.Pro198=
NR_024048.2:n.1068C>A
XM_006724836.1:c.780C>A	XP_006724899.1:p.Pro260=
XM_006724837.1:c.765C>A	XP_006724900.1:p.Pro255=
XM_006724839.1:c.648C>A	XP_006724902.1:p.Pro216=
XM_006724841.2:c.519C>A	XP_006724904.1:p.Pro173=
XM_006724842.2:c.429C>A	XP_006724905.1:p.Pro143=
XM_011531189.1:c.567C>A	XP_011529491.1:p.Pro189=
XM_011531190.1:c.519C>A	XP_011529492.1:p.Pro173=
XM_011531191.1:c.450C>A	XP_011529493.1:p.Pro150=
XM_011531192.1:c.447C>A	XP_011529494.1:p.Pro149=
XR_938511.1:n.1074C>A
XM_006724841.4:c.519C>A	XP_006724904.1:p.Pro173=
XM_006724842.4:c.429C>A	XP_006724905.1:p.Pro143=
XM_011531191.2:c.450C>A	XP_011529493.1:p.Pro150=
XM_017029761.1:c.711C>A	XP_016885250.1:p.Pro237=
XM_017029762.1:c.690C>A	XP_016885251.1:p.Pro230=
XM_017029763.1:c.513C>A	XP_016885252.1:p.Pro171=
XM_017029764.1:c.447C>A	XP_016885253.1:p.Pro149=
XM_017029765.2:c.387C>A	XP_016885254.1:p.Pro129=
XM_024452431.1:c.684C>A	XP_024308199.1:p.Pro228=
NM_000116.5:c.726C>A MANE Select	NP_000107.1:p.Pro242=
NM_001303465.2:c.738C>A	NP_001290394.1:p.Pro246=
NM_181311.4:c.636C>A	NP_851828.1:p.Pro212=
NM_181312.4:c.684C>A	NP_851829.1:p.Pro228=
NM_181313.4:c.594C>A	NP_851830.1:p.Pro198=
NR_024048.3:n.1047C>A