Canonical Allele Identifier: CA2695121544

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154413298-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413298T>A , CM000685.2:g.154413298T>A	GRCh38
NC_000023.10:g.153641635T>A , CM000685.1:g.153641635T>A	GRCh37
NC_000023.9:g.153294829T>A	NCBI36
NG_009634.1:g.6759T>A
NG_012884.2:g.3791A>T
NG_009634.2:g.6764T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.758T>A
ENST00000698235.1:n.317T>A
ENST00000698317.1:n.1284T>A
ENST00000698318.1:n.1145T>A
ENST00000470127.2:n.379T>A
ENST00000475699.6:c.338+46T>A	ENSP00000419854.3:n.338+46T>A
ENST00000476800.2:n.1287T>A
ENST00000483674.3:n.175+46T>A
ENST00000601016.6:c.284+46T>A MANE Select	ENSP00000469981.1:n.284+46T>A
ENST00000612012.5:c.284+46T>A	ENSP00000482070.2:n.284+46T>A
ENST00000612460.5:c.284+46T>A	ENSP00000481037.1:n.284+46T>A
ENST00000614595.2:n.1680T>A
ENST00000615658.5:n.597+46T>A
ENST00000616020.5:c.338+46T>A	ENSP00000483636.2:n.338+46T>A
ENST00000617701.5:c.*42T>A	ENSP00000481645.1:n.*42T>A
ENST00000621647.2:n.383T>A
ENST00000652354.1:c.8+46T>A	ENSP00000498734.1:n.8+46T>A
ENST00000652358.1:c.36T>A	ENSP00000498464.1:p.Pro12=
ENST00000652390.1:c.203+46T>A	ENSP00000498858.1:n.203+46T>A
ENST00000652476.1:n.491T>A
ENST00000652682.1:c.284+46T>A	ENSP00000498288.1:n.284+46T>A
ENST00000652685.1:n.382T>A
ENST00000369776.8:c.209+46T>A	ENSP00000358791.4:n.209+46T>A
ENST00000426231.5:c.146T>A
ENST00000439735.2:c.284+46T>A	ENSP00000398193.1:n.284+46T>A
ENST00000475699.5:c.284+46T>A	ENSP00000419854.2:n.284+46T>A
ENST00000476679.5:n.197+46T>A
ENST00000476800.1:n.208T>A
ENST00000479875.1:n.313+46T>A
ENST00000483780.5:n.58+46T>A
ENST00000601016.5:c.284+46T>A	ENSP00000469981.1:n.284+46T>A
ENST00000612012.4:c.338+46T>A	ENSP00000482070.1:n.338+46T>A
ENST00000612460.4:c.284+46T>A	ENSP00000481037.1:n.284+46T>A
ENST00000613002.4:c.284+46T>A	ENSP00000478154.1:n.284+46T>A
ENST00000613634.4:n.604+46T>A
ENST00000615658.4:n.656T>A
ENST00000615986.4:c.*42T>A	ENSP00000480133.1:n.*42T>A
ENST00000616020.4:c.338+46T>A	ENSP00000483636.1:n.338+46T>A
ENST00000617701.4:c.*42T>A	ENSP00000481645.1:n.*42T>A
ENST00000620808.4:c.*42T>A	ENSP00000479311.1:n.*42T>A
ENST00000621647.1:n.615T>A
NM_000116.4:c.284+46T>A	NP_000107.1:n.284+46T>A
NM_001303465.1:c.338+46T>A	NP_001290394.1:n.338+46T>A
NM_181311.3:c.284+46T>A	NP_851828.1:n.284+46T>A
NM_181312.3:c.284+46T>A	NP_851829.1:n.284+46T>A
NM_181313.3:c.284+46T>A	NP_851830.1:n.284+46T>A
NR_024048.2:n.656T>A
XM_006724836.1:c.338+46T>A	XP_006724899.1:n.338+46T>A
XM_006724837.1:c.338+46T>A	XP_006724900.1:n.338+46T>A
XM_006724839.1:c.338+46T>A	XP_006724902.1:n.338+46T>A
XM_006724841.2:c.36T>A	XP_006724904.1:p.Pro12=
XM_006724842.2:c.36T>A	XP_006724905.1:p.Pro12=
XM_011531189.1:c.338+46T>A	XP_011529491.1:n.338+46T>A
XM_011531190.1:c.36T>A	XP_011529492.1:p.Pro12=
XM_011531191.1:c.8+46T>A	XP_011529493.1:n.8+46T>A
XM_011531192.1:c.-68T>A	XP_011529494.1:n.-68T>A
XR_938511.1:n.641+46T>A
XM_006724841.4:c.36T>A	XP_006724904.1:p.Pro12=
XM_006724842.4:c.36T>A	XP_006724905.1:p.Pro12=
XM_011531191.2:c.8+46T>A	XP_011529493.1:n.8+46T>A
XM_017029761.1:c.284+46T>A	XP_016885250.1:n.284+46T>A
XM_017029762.1:c.338+46T>A	XP_016885251.1:n.338+46T>A
XM_017029763.1:c.284+46T>A	XP_016885252.1:n.284+46T>A
XM_017029764.1:c.-68T>A	XP_016885253.1:n.-68T>A
XM_017029765.2:c.36T>A	XP_016885254.1:p.Pro12=
XM_024452431.1:c.338+46T>A	XP_024308199.1:n.338+46T>A
NM_000116.5:c.284+46T>A MANE Select	NP_000107.1:n.284+46T>A
NM_001303465.2:c.338+46T>A	NP_001290394.1:n.338+46T>A
NM_181311.4:c.284+46T>A	NP_851828.1:n.284+46T>A
NM_181312.4:c.284+46T>A	NP_851829.1:n.284+46T>A
NM_181313.4:c.284+46T>A	NP_851830.1:n.284+46T>A
NR_024048.3:n.635T>A