Canonical Allele Identifier: CA519277548

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641849C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413512C>A , CM000685.2:g.154413512C>A	GRCh38
NC_000023.10:g.153641849C>A , CM000685.1:g.153641849C>A	GRCh37
NC_000023.9:g.153295043C>A	NCBI36
NG_009634.1:g.6973C>A
NG_012884.2:g.3577G>T
NG_009634.2:g.6978C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.849C>A
ENST00000698235.1:n.389C>A
ENST00000698317.1:n.1375C>A
ENST00000698318.1:n.1248C>A
ENST00000470127.2:n.593C>A
ENST00000475699.6:c.369C>A	ENSP00000419854.3:p.Thr123=
ENST00000476800.2:n.1501C>A
ENST00000483674.3:n.206C>A
ENST00000601016.6:c.315C>A MANE Select	ENSP00000469981.1:p.Thr105=
ENST00000612012.5:c.315C>A	ENSP00000482070.2:p.Thr105=
ENST00000612460.5:c.315C>A	ENSP00000481037.1:p.Thr105=
ENST00000614595.2:n.1752C>A
ENST00000615658.5:n.628C>A
ENST00000616020.5:c.369C>A	ENSP00000483636.2:p.Thr123=
ENST00000617701.5:c.*133C>A	ENSP00000481645.1:n.*133C>A
ENST00000621647.2:n.597C>A
ENST00000652354.1:c.39C>A	ENSP00000498734.1:p.Thr13=
ENST00000652358.1:c.108C>A	ENSP00000498464.1:p.Thr36=
ENST00000652390.1:c.234C>A	ENSP00000498858.1:p.Thr78=
ENST00000652476.1:n.705C>A
ENST00000652682.1:c.315C>A	ENSP00000498288.1:p.Thr105=
ENST00000652685.1:n.473C>A
ENST00000369776.8:c.240C>A	ENSP00000358791.4:p.Thr80=
ENST00000426231.5:c.231C>A
ENST00000439735.2:c.315C>A	ENSP00000398193.1:p.Thr105=
ENST00000475699.5:c.315C>A	ENSP00000419854.2:p.Thr105=
ENST00000476679.5:n.228C>A
ENST00000476800.1:n.422C>A
ENST00000479875.1:n.344C>A
ENST00000483674.2:n.24C>A
ENST00000483780.5:n.89C>A
ENST00000601016.5:c.315C>A	ENSP00000469981.1:p.Thr105=
ENST00000612012.4:c.369C>A	ENSP00000482070.1:p.Thr123=
ENST00000612460.4:c.315C>A	ENSP00000481037.1:p.Thr105=
ENST00000613002.4:c.315C>A	ENSP00000478154.1:p.Thr105=
ENST00000613634.4:n.635C>A
ENST00000615658.4:n.728C>A
ENST00000615986.4:c.*133C>A	ENSP00000480133.1:n.*133C>A
ENST00000616020.4:c.369C>A	ENSP00000483636.1:p.Thr123=
ENST00000617701.4:c.*145C>A	ENSP00000481645.1:n.*145C>A
ENST00000620808.4:c.*114C>A	ENSP00000479311.1:n.*114C>A
ENST00000621647.1:n.829C>A
NM_000116.4:c.315C>A	NP_000107.1:p.Thr105=
NM_001303465.1:c.369C>A	NP_001290394.1:p.Thr123=
NM_181311.3:c.315C>A	NP_851828.1:p.Thr105=
NM_181312.3:c.315C>A	NP_851829.1:p.Thr105=
NM_181313.3:c.315C>A	NP_851830.1:p.Thr105=
NR_024048.2:n.747C>A
XM_006724836.1:c.369C>A	XP_006724899.1:p.Thr123=
XM_006724837.1:c.369C>A	XP_006724900.1:p.Thr123=
XM_006724839.1:c.369C>A	XP_006724902.1:p.Thr123=
XM_006724841.2:c.108C>A	XP_006724904.1:p.Thr36=
XM_006724842.2:c.108C>A	XP_006724905.1:p.Thr36=
XM_011531189.1:c.369C>A	XP_011529491.1:p.Thr123=
XM_011531190.1:c.108C>A	XP_011529492.1:p.Thr36=
XM_011531191.1:c.39C>A	XP_011529493.1:p.Thr13=
XM_011531192.1:c.36C>A	XP_011529494.1:p.Thr12=
XR_938511.1:n.672C>A
XM_006724841.4:c.108C>A	XP_006724904.1:p.Thr36=
XM_006724842.4:c.108C>A	XP_006724905.1:p.Thr36=
XM_011531191.2:c.39C>A	XP_011529493.1:p.Thr13=
XM_017029761.1:c.315C>A	XP_016885250.1:p.Thr105=
XM_017029762.1:c.369C>A	XP_016885251.1:p.Thr123=
XM_017029763.1:c.315C>A	XP_016885252.1:p.Thr105=
XM_017029764.1:c.36C>A	XP_016885253.1:p.Thr12=
XM_017029765.2:c.108C>A	XP_016885254.1:p.Thr36=
XM_024452431.1:c.369C>A	XP_024308199.1:p.Thr123=
NM_000116.5:c.315C>A MANE Select	NP_000107.1:p.Thr105=
NM_001303465.2:c.369C>A	NP_001290394.1:p.Thr123=
NM_181311.4:c.315C>A	NP_851828.1:p.Thr105=
NM_181312.4:c.315C>A	NP_851829.1:p.Thr105=
NM_181313.4:c.315C>A	NP_851830.1:p.Thr105=
NR_024048.3:n.726C>A