Canonical Allele Identifier: CA519277668
Gene: TAFAZZIN HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153641882C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154413545C>T , CM000685.2:g.154413545C>T GRCh38
NC_000023.10:g.153641882C>T , CM000685.1:g.153641882C>T GRCh37
NC_000023.9:g.153295076C>T NCBI36
NG_009634.1:g.7006C>T
NG_012884.2:g.3544G>A
NG_009634.2:g.7011C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000698234.1:n.882C>T
ENST00000698235.1:n.422C>T
ENST00000698317.1:n.1408C>T
ENST00000698318.1:n.1281C>T
ENST00000470127.2:n.626C>T
ENST00000475699.6:c.402C>T ENSP00000419854.3:p.Gly134=
ENST00000476800.2:n.1534C>T
ENST00000483674.3:n.239C>T
ENST00000601016.6:c.348C>T MANE Select ENSP00000469981.1:p.Gly116=
ENST00000612012.5:c.348C>T ENSP00000482070.2:p.Gly116=
ENST00000612460.5:c.348C>T ENSP00000481037.1:p.Gly116=
ENST00000614595.2:n.1785C>T
ENST00000615658.5:n.661C>T
ENST00000616020.5:c.402C>T ENSP00000483636.2:p.Gly134=
ENST00000617701.5:c.*166C>T ENSP00000481645.1:n.*166C>T
ENST00000621647.2:n.630C>T
ENST00000652354.1:c.72C>T ENSP00000498734.1:p.Gly24=
ENST00000652358.1:c.141C>T ENSP00000498464.1:p.Gly47=
ENST00000652390.1:c.267C>T ENSP00000498858.1:p.Gly89=
ENST00000652476.1:n.738C>T
ENST00000652682.1:c.348C>T ENSP00000498288.1:p.Gly116=
ENST00000652685.1:n.506C>T
ENST00000369776.8:c.273C>T ENSP00000358791.4:p.Gly91=
ENST00000426231.5:c.264C>T
ENST00000439735.2:c.348C>T ENSP00000398193.1:p.Gly116=
ENST00000470127.1:n.17C>T
ENST00000475699.5:c.348C>T ENSP00000419854.2:p.Gly116=
ENST00000476679.5:n.261C>T
ENST00000476800.1:n.455C>T
ENST00000479875.1:n.377C>T
ENST00000483674.2:n.57C>T
ENST00000483780.5:n.122C>T
ENST00000601016.5:c.348C>T ENSP00000469981.1:p.Gly116=
ENST00000612012.4:c.402C>T ENSP00000482070.1:p.Gly134=
ENST00000612460.4:c.348C>T ENSP00000481037.1:p.Gly116=
ENST00000613002.4:c.348C>T ENSP00000478154.1:p.Gly116=
ENST00000613634.4:n.668C>T
ENST00000615658.4:n.761C>T
ENST00000615986.4:c.*166C>T ENSP00000480133.1:n.*166C>T
ENST00000616020.4:c.402C>T ENSP00000483636.1:p.Gly134=
ENST00000617701.4:c.*178C>T ENSP00000481645.1:n.*178C>T
ENST00000620808.4:c.*147C>T ENSP00000479311.1:n.*147C>T
ENST00000621647.1:n.862C>T
NM_000116.4:c.348C>T NP_000107.1:p.Gly116=
NM_001303465.1:c.402C>T NP_001290394.1:p.Gly134=
NM_181311.3:c.348C>T NP_851828.1:p.Gly116=
NM_181312.3:c.348C>T NP_851829.1:p.Gly116=
NM_181313.3:c.348C>T NP_851830.1:p.Gly116=
NR_024048.2:n.780C>T
XM_006724836.1:c.402C>T XP_006724899.1:p.Gly134=
XM_006724837.1:c.402C>T XP_006724900.1:p.Gly134=
XM_006724839.1:c.402C>T XP_006724902.1:p.Gly134=
XM_006724841.2:c.141C>T XP_006724904.1:p.Gly47=
XM_006724842.2:c.141C>T XP_006724905.1:p.Gly47=
XM_011531189.1:c.402C>T XP_011529491.1:p.Gly134=
XM_011531190.1:c.141C>T XP_011529492.1:p.Gly47=
XM_011531191.1:c.72C>T XP_011529493.1:p.Gly24=
XM_011531192.1:c.69C>T XP_011529494.1:p.Gly23=
XR_938511.1:n.705C>T
XM_006724841.4:c.141C>T XP_006724904.1:p.Gly47=
XM_006724842.4:c.141C>T XP_006724905.1:p.Gly47=
XM_011531191.2:c.72C>T XP_011529493.1:p.Gly24=
XM_017029761.1:c.348C>T XP_016885250.1:p.Gly116=
XM_017029762.1:c.402C>T XP_016885251.1:p.Gly134=
XM_017029763.1:c.348C>T XP_016885252.1:p.Gly116=
XM_017029764.1:c.69C>T XP_016885253.1:p.Gly23=
XM_017029765.2:c.141C>T XP_016885254.1:p.Gly47=
XM_024452431.1:c.402C>T XP_024308199.1:p.Gly134=
NM_000116.5:c.348C>T MANE Select NP_000107.1:p.Gly116=
NM_001303465.2:c.402C>T NP_001290394.1:p.Gly134=
NM_181311.4:c.348C>T NP_851828.1:p.Gly116=
NM_181312.4:c.348C>T NP_851829.1:p.Gly116=
NM_181313.4:c.348C>T NP_851830.1:p.Gly116=
NR_024048.3:n.759C>T