Canonical Allele Identifier: CA415185352

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068603645
• MyVariant Identifiers: chrX:g.153649007T>C (hg19) ; chrX:g.154420668T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420668T>C , CM000685.2:g.154420668T>C	GRCh38
NC_000023.10:g.153649007T>C , CM000685.1:g.153649007T>C	GRCh37
NC_000023.9:g.153302201T>C	NCBI36
NG_009634.1:g.14131T>C
NG_009634.2:g.14134T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1520T>C
ENST00000698317.1:n.2136T>C
ENST00000698318.1:n.1919T>C
ENST00000698319.1:n.1282T>C
ENST00000698320.1:n.1170T>C
ENST00000470127.2:n.1183T>C
ENST00000475699.6:c.674T>C	ENSP00000419854.3:p.Val225Ala
ENST00000483674.3:n.592T>C
ENST00000601016.6:c.710T>C MANE Select	ENSP00000469981.1:p.Val237Ala
ENST00000612012.5:c.668T>C	ENSP00000482070.2:p.Val223Ala
ENST00000612460.5:c.620T>C	ENSP00000481037.1:p.Val207Ala
ENST00000614595.2:n.2057T>C
ENST00000615658.5:n.1299T>C
ENST00000616020.5:c.722T>C	ENSP00000483636.2:p.Val241Ala
ENST00000617701.5:c.*723T>C	ENSP00000481645.1:n.*723T>C
ENST00000651139.1:c.-74T>C	ENSP00000498957.1:n.-74T>C
ENST00000652354.1:c.392T>C	ENSP00000498734.1:p.Val131Ala
ENST00000652358.1:c.503T>C	ENSP00000498464.1:p.Val168Ala
ENST00000652390.1:c.629T>C	ENSP00000498858.1:p.Val210Ala
ENST00000652476.1:n.1376T>C
ENST00000652644.1:c.323T>C	ENSP00000498496.1:p.Val108Ala
ENST00000652682.1:c.767T>C	ENSP00000498288.1:p.Val256Ala
ENST00000652685.1:n.1063T>C
ENST00000369776.8:c.620T>C	ENSP00000358791.4:p.Val207Ala
ENST00000426231.5:c.707T>C
ENST00000475699.5:c.668T>C	ENSP00000419854.2:p.Val223Ala
ENST00000494912.5:n.1399T>C
ENST00000498029.1:n.168T>C
ENST00000601016.5:c.710T>C	ENSP00000469981.1:p.Val237Ala
ENST00000612460.4:c.620T>C	ENSP00000481037.1:p.Val207Ala
ENST00000613002.4:c.578T>C	ENSP00000478154.1:p.Val193Ala
ENST00000615986.4:c.*438T>C	ENSP00000480133.1:n.*438T>C
NM_000116.4:c.710T>C	NP_000107.1:p.Val237Ala
NM_001303465.1:c.722T>C	NP_001290394.1:p.Val241Ala
NM_181311.3:c.620T>C	NP_851828.1:p.Val207Ala
NM_181312.3:c.668T>C	NP_851829.1:p.Val223Ala
NM_181313.3:c.578T>C	NP_851830.1:p.Val193Ala
NR_024048.2:n.1052T>C
XM_006724836.1:c.764T>C	XP_006724899.1:p.Val255Ala
XM_006724837.1:c.749T>C	XP_006724900.1:p.Val250Ala
XM_006724839.1:c.632T>C	XP_006724902.1:p.Val211Ala
XM_006724841.2:c.503T>C	XP_006724904.1:p.Val168Ala
XM_006724842.2:c.413T>C	XP_006724905.1:p.Val138Ala
XM_011531189.1:c.551T>C	XP_011529491.1:p.Val184Ala
XM_011531190.1:c.503T>C	XP_011529492.1:p.Val168Ala
XM_011531191.1:c.434T>C	XP_011529493.1:p.Val145Ala
XM_011531192.1:c.431T>C	XP_011529494.1:p.Val144Ala
XR_938511.1:n.1058T>C
XM_006724841.4:c.503T>C	XP_006724904.1:p.Val168Ala
XM_006724842.4:c.413T>C	XP_006724905.1:p.Val138Ala
XM_011531191.2:c.434T>C	XP_011529493.1:p.Val145Ala
XM_017029761.1:c.695T>C	XP_016885250.1:p.Val232Ala
XM_017029762.1:c.674T>C	XP_016885251.1:p.Val225Ala
XM_017029763.1:c.497T>C	XP_016885252.1:p.Val166Ala
XM_017029764.1:c.431T>C	XP_016885253.1:p.Val144Ala
XM_017029765.2:c.371T>C	XP_016885254.1:p.Val124Ala
XM_024452431.1:c.668T>C	XP_024308199.1:p.Val223Ala
NM_000116.5:c.710T>C MANE Select	NP_000107.1:p.Val237Ala
NM_001303465.2:c.722T>C	NP_001290394.1:p.Val241Ala
NM_181311.4:c.620T>C	NP_851828.1:p.Val207Ala
NM_181312.4:c.668T>C	NP_851829.1:p.Val223Ala
NM_181313.4:c.578T>C	NP_851830.1:p.Val193Ala
NR_024048.3:n.1031T>C