Canonical Allele Identifier: CA2579738693

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413327C>T , CM000685.2:g.154413327C>T	GRCh38
NC_000023.10:g.153641664C>T , CM000685.1:g.153641664C>T	GRCh37
NC_000023.9:g.153294858C>T	NCBI36
NG_009634.1:g.6788C>T
NG_012884.2:g.3762G>A
NG_009634.2:g.6793C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.787C>T
ENST00000698235.1:n.346C>T
ENST00000698317.1:n.1313C>T
ENST00000698318.1:n.1174C>T
ENST00000470127.2:n.408C>T
ENST00000475699.6:c.338+75C>T	ENSP00000419854.3:n.338+75C>T
ENST00000476800.2:n.1316C>T
ENST00000483674.3:n.175+75C>T
ENST00000601016.6:c.284+75C>T MANE Select	ENSP00000469981.1:n.284+75C>T
ENST00000612012.5:c.284+75C>T	ENSP00000482070.2:n.284+75C>T
ENST00000612460.5:c.284+75C>T	ENSP00000481037.1:n.284+75C>T
ENST00000614595.2:n.1709C>T
ENST00000615658.5:n.597+75C>T
ENST00000616020.5:c.338+75C>T	ENSP00000483636.2:n.338+75C>T
ENST00000617701.5:c.*71C>T	ENSP00000481645.1:n.*71C>T
ENST00000621647.2:n.412C>T
ENST00000652354.1:c.8+75C>T	ENSP00000498734.1:n.8+75C>T
ENST00000652358.1:c.65C>T	ENSP00000498464.1:p.Ala22Val
ENST00000652390.1:c.203+75C>T	ENSP00000498858.1:n.203+75C>T
ENST00000652476.1:n.520C>T
ENST00000652682.1:c.284+75C>T	ENSP00000498288.1:n.284+75C>T
ENST00000652685.1:n.411C>T
ENST00000369776.8:c.209+75C>T	ENSP00000358791.4:n.209+75C>T
ENST00000426231.5:c.175C>T
ENST00000439735.2:c.284+75C>T	ENSP00000398193.1:n.284+75C>T
ENST00000475699.5:c.284+75C>T	ENSP00000419854.2:n.284+75C>T
ENST00000476679.5:n.197+75C>T
ENST00000476800.1:n.237C>T
ENST00000479875.1:n.313+75C>T
ENST00000483780.5:n.58+75C>T
ENST00000601016.5:c.284+75C>T	ENSP00000469981.1:n.284+75C>T
ENST00000612012.4:c.338+75C>T	ENSP00000482070.1:n.338+75C>T
ENST00000612460.4:c.284+75C>T	ENSP00000481037.1:n.284+75C>T
ENST00000613002.4:c.284+75C>T	ENSP00000478154.1:n.284+75C>T
ENST00000613634.4:n.604+75C>T
ENST00000615658.4:n.685C>T
ENST00000615986.4:c.*71C>T	ENSP00000480133.1:n.*71C>T
ENST00000616020.4:c.338+75C>T	ENSP00000483636.1:n.338+75C>T
ENST00000617701.4:c.*71C>T	ENSP00000481645.1:n.*71C>T
ENST00000620808.4:c.*71C>T	ENSP00000479311.1:n.*71C>T
ENST00000621647.1:n.644C>T
NM_000116.4:c.284+75C>T	NP_000107.1:n.284+75C>T
NM_001303465.1:c.338+75C>T	NP_001290394.1:n.338+75C>T
NM_181311.3:c.284+75C>T	NP_851828.1:n.284+75C>T
NM_181312.3:c.284+75C>T	NP_851829.1:n.284+75C>T
NM_181313.3:c.284+75C>T	NP_851830.1:n.284+75C>T
NR_024048.2:n.685C>T
XM_006724836.1:c.338+75C>T	XP_006724899.1:n.338+75C>T
XM_006724837.1:c.338+75C>T	XP_006724900.1:n.338+75C>T
XM_006724839.1:c.338+75C>T	XP_006724902.1:n.338+75C>T
XM_006724841.2:c.65C>T	XP_006724904.1:p.Ala22Val
XM_006724842.2:c.65C>T	XP_006724905.1:p.Ala22Val
XM_011531189.1:c.338+75C>T	XP_011529491.1:n.338+75C>T
XM_011531190.1:c.65C>T	XP_011529492.1:p.Ala22Val
XM_011531191.1:c.8+75C>T	XP_011529493.1:n.8+75C>T
XM_011531192.1:c.-39C>T	XP_011529494.1:n.-39C>T
XR_938511.1:n.641+75C>T
XM_006724841.4:c.65C>T	XP_006724904.1:p.Ala22Val
XM_006724842.4:c.65C>T	XP_006724905.1:p.Ala22Val
XM_011531191.2:c.8+75C>T	XP_011529493.1:n.8+75C>T
XM_017029761.1:c.284+75C>T	XP_016885250.1:n.284+75C>T
XM_017029762.1:c.338+75C>T	XP_016885251.1:n.338+75C>T
XM_017029763.1:c.284+75C>T	XP_016885252.1:n.284+75C>T
XM_017029764.1:c.-39C>T	XP_016885253.1:n.-39C>T
XM_017029765.2:c.65C>T	XP_016885254.1:p.Ala22Val
XM_024452431.1:c.338+75C>T	XP_024308199.1:n.338+75C>T
NM_000116.5:c.284+75C>T MANE Select	NP_000107.1:n.284+75C>T
NM_001303465.2:c.338+75C>T	NP_001290394.1:n.338+75C>T
NM_181311.4:c.284+75C>T	NP_851828.1:n.284+75C>T
NM_181312.4:c.284+75C>T	NP_851829.1:n.284+75C>T
NM_181313.4:c.284+75C>T	NP_851830.1:n.284+75C>T
NR_024048.3:n.664C>T