Canonical Allele Identifier: CA415185445

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1557194377
• gnomAD v2: X-153649045-G-A
• gnomAD v3: X-154420706-G-A
• gnomAD v4: X-154420706-G-A
• MyVariant Identifiers: chrX:g.153649045G>A (hg19) ; chrX:g.154420706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420706G>A , CM000685.2:g.154420706G>A	GRCh38
NC_000023.10:g.153649045G>A , CM000685.1:g.153649045G>A	GRCh37
NC_000023.9:g.153302239G>A	NCBI36
NG_009634.1:g.14169G>A
NG_009634.2:g.14172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1558G>A
ENST00000698317.1:n.2174G>A
ENST00000698318.1:n.1957G>A
ENST00000698319.1:n.1320G>A
ENST00000698320.1:n.1208G>A
ENST00000470127.2:n.1221G>A
ENST00000475699.6:c.712G>A	ENSP00000419854.3:p.Glu238Lys
ENST00000483674.3:n.630G>A
ENST00000601016.6:c.748G>A MANE Select	ENSP00000469981.1:p.Glu250Lys
ENST00000612012.5:c.706G>A	ENSP00000482070.2:p.Glu236Lys
ENST00000612460.5:c.658G>A	ENSP00000481037.1:p.Glu220Lys
ENST00000614595.2:n.2095G>A
ENST00000615658.5:n.1337G>A
ENST00000616020.5:c.760G>A	ENSP00000483636.2:p.Glu254Lys
ENST00000617701.5:c.*761G>A	ENSP00000481645.1:n.*761G>A
ENST00000651139.1:c.-36G>A	ENSP00000498957.1:n.-36G>A
ENST00000652354.1:c.430G>A	ENSP00000498734.1:p.Glu144Lys
ENST00000652358.1:c.541G>A	ENSP00000498464.1:p.Glu181Lys
ENST00000652390.1:c.667G>A	ENSP00000498858.1:p.Glu223Lys
ENST00000652476.1:n.1414G>A
ENST00000652644.1:c.361G>A	ENSP00000498496.1:p.Glu121Lys
ENST00000652682.1:c.805G>A	ENSP00000498288.1:p.Glu269Lys
ENST00000652685.1:n.1101G>A
ENST00000369776.8:c.658G>A	ENSP00000358791.4:p.Glu220Lys
ENST00000426231.5:c.745G>A
ENST00000475699.5:c.706G>A	ENSP00000419854.2:p.Glu236Lys
ENST00000494912.5:n.1437G>A
ENST00000498029.1:n.206G>A
ENST00000601016.5:c.748G>A	ENSP00000469981.1:p.Glu250Lys
ENST00000612460.4:c.658G>A	ENSP00000481037.1:p.Glu220Lys
ENST00000613002.4:c.616G>A	ENSP00000478154.1:p.Glu206Lys
ENST00000615986.4:c.*476G>A	ENSP00000480133.1:n.*476G>A
NM_000116.4:c.748G>A	NP_000107.1:p.Glu250Lys
NM_001303465.1:c.760G>A	NP_001290394.1:p.Glu254Lys
NM_181311.3:c.658G>A	NP_851828.1:p.Glu220Lys
NM_181312.3:c.706G>A	NP_851829.1:p.Glu236Lys
NM_181313.3:c.616G>A	NP_851830.1:p.Glu206Lys
NR_024048.2:n.1090G>A
XM_006724836.1:c.802G>A	XP_006724899.1:p.Glu268Lys
XM_006724837.1:c.787G>A	XP_006724900.1:p.Glu263Lys
XM_006724839.1:c.670G>A	XP_006724902.1:p.Glu224Lys
XM_006724841.2:c.541G>A	XP_006724904.1:p.Glu181Lys
XM_006724842.2:c.451G>A	XP_006724905.1:p.Glu151Lys
XM_011531189.1:c.589G>A	XP_011529491.1:p.Glu197Lys
XM_011531190.1:c.541G>A	XP_011529492.1:p.Glu181Lys
XM_011531191.1:c.472G>A	XP_011529493.1:p.Glu158Lys
XM_011531192.1:c.469G>A	XP_011529494.1:p.Glu157Lys
XR_938511.1:n.1096G>A
XM_006724841.4:c.541G>A	XP_006724904.1:p.Glu181Lys
XM_006724842.4:c.451G>A	XP_006724905.1:p.Glu151Lys
XM_011531191.2:c.472G>A	XP_011529493.1:p.Glu158Lys
XM_017029761.1:c.733G>A	XP_016885250.1:p.Glu245Lys
XM_017029762.1:c.712G>A	XP_016885251.1:p.Glu238Lys
XM_017029763.1:c.535G>A	XP_016885252.1:p.Glu179Lys
XM_017029764.1:c.469G>A	XP_016885253.1:p.Glu157Lys
XM_017029765.2:c.409G>A	XP_016885254.1:p.Glu137Lys
XM_024452431.1:c.706G>A	XP_024308199.1:p.Glu236Lys
NM_000116.5:c.748G>A MANE Select	NP_000107.1:p.Glu250Lys
NM_001303465.2:c.760G>A	NP_001290394.1:p.Glu254Lys
NM_181311.4:c.658G>A	NP_851828.1:p.Glu220Lys
NM_181312.4:c.706G>A	NP_851829.1:p.Glu236Lys
NM_181313.4:c.616G>A	NP_851830.1:p.Glu206Lys
NR_024048.3:n.1069G>A