Canonical Allele Identifier: CA519277537

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641834A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413497A>C , CM000685.2:g.154413497A>C	GRCh38
NC_000023.10:g.153641834A>C , CM000685.1:g.153641834A>C	GRCh37
NC_000023.9:g.153295028A>C	NCBI36
NG_009634.1:g.6958A>C
NG_012884.2:g.3592T>G
NG_009634.2:g.6963A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.834A>C
ENST00000698235.1:n.374A>C
ENST00000698317.1:n.1360A>C
ENST00000698318.1:n.1233A>C
ENST00000470127.2:n.578A>C
ENST00000475699.6:c.354A>C	ENSP00000419854.3:p.Ala118=
ENST00000476800.2:n.1486A>C
ENST00000483674.3:n.191A>C
ENST00000601016.6:c.300A>C MANE Select	ENSP00000469981.1:p.Ala100=
ENST00000612012.5:c.300A>C	ENSP00000482070.2:p.Ala100=
ENST00000612460.5:c.300A>C	ENSP00000481037.1:p.Ala100=
ENST00000614595.2:n.1737A>C
ENST00000615658.5:n.613A>C
ENST00000616020.5:c.354A>C	ENSP00000483636.2:p.Ala118=
ENST00000617701.5:c.*118A>C	ENSP00000481645.1:n.*118A>C
ENST00000621647.2:n.582A>C
ENST00000652354.1:c.24A>C	ENSP00000498734.1:p.Ala8=
ENST00000652358.1:c.93A>C	ENSP00000498464.1:p.Ala31=
ENST00000652390.1:c.219A>C	ENSP00000498858.1:p.Ala73=
ENST00000652476.1:n.690A>C
ENST00000652682.1:c.300A>C	ENSP00000498288.1:p.Ala100=
ENST00000652685.1:n.458A>C
ENST00000369776.8:c.225A>C	ENSP00000358791.4:p.Ala75=
ENST00000426231.5:c.216A>C
ENST00000439735.2:c.300A>C	ENSP00000398193.1:p.Ala100=
ENST00000475699.5:c.300A>C	ENSP00000419854.2:p.Ala100=
ENST00000476679.5:n.213A>C
ENST00000476800.1:n.407A>C
ENST00000479875.1:n.329A>C
ENST00000483674.2:n.9A>C
ENST00000483780.5:n.74A>C
ENST00000601016.5:c.300A>C	ENSP00000469981.1:p.Ala100=
ENST00000612012.4:c.354A>C	ENSP00000482070.1:p.Ala118=
ENST00000612460.4:c.300A>C	ENSP00000481037.1:p.Ala100=
ENST00000613002.4:c.300A>C	ENSP00000478154.1:p.Ala100=
ENST00000613634.4:n.620A>C
ENST00000615658.4:n.713A>C
ENST00000615986.4:c.*118A>C	ENSP00000480133.1:n.*118A>C
ENST00000616020.4:c.354A>C	ENSP00000483636.1:p.Ala118=
ENST00000617701.4:c.*130A>C	ENSP00000481645.1:n.*130A>C
ENST00000620808.4:c.*99A>C	ENSP00000479311.1:n.*99A>C
ENST00000621647.1:n.814A>C
NM_000116.4:c.300A>C	NP_000107.1:p.Ala100=
NM_001303465.1:c.354A>C	NP_001290394.1:p.Ala118=
NM_181311.3:c.300A>C	NP_851828.1:p.Ala100=
NM_181312.3:c.300A>C	NP_851829.1:p.Ala100=
NM_181313.3:c.300A>C	NP_851830.1:p.Ala100=
NR_024048.2:n.732A>C
XM_006724836.1:c.354A>C	XP_006724899.1:p.Ala118=
XM_006724837.1:c.354A>C	XP_006724900.1:p.Ala118=
XM_006724839.1:c.354A>C	XP_006724902.1:p.Ala118=
XM_006724841.2:c.93A>C	XP_006724904.1:p.Ala31=
XM_006724842.2:c.93A>C	XP_006724905.1:p.Ala31=
XM_011531189.1:c.354A>C	XP_011529491.1:p.Ala118=
XM_011531190.1:c.93A>C	XP_011529492.1:p.Ala31=
XM_011531191.1:c.24A>C	XP_011529493.1:p.Ala8=
XM_011531192.1:c.21A>C	XP_011529494.1:p.Ala7=
XR_938511.1:n.657A>C
XM_006724841.4:c.93A>C	XP_006724904.1:p.Ala31=
XM_006724842.4:c.93A>C	XP_006724905.1:p.Ala31=
XM_011531191.2:c.24A>C	XP_011529493.1:p.Ala8=
XM_017029761.1:c.300A>C	XP_016885250.1:p.Ala100=
XM_017029762.1:c.354A>C	XP_016885251.1:p.Ala118=
XM_017029763.1:c.300A>C	XP_016885252.1:p.Ala100=
XM_017029764.1:c.21A>C	XP_016885253.1:p.Ala7=
XM_017029765.2:c.93A>C	XP_016885254.1:p.Ala31=
XM_024452431.1:c.354A>C	XP_024308199.1:p.Ala118=
NM_000116.5:c.300A>C MANE Select	NP_000107.1:p.Ala100=
NM_001303465.2:c.354A>C	NP_001290394.1:p.Ala118=
NM_181311.4:c.300A>C	NP_851828.1:p.Ala100=
NM_181312.4:c.300A>C	NP_851829.1:p.Ala100=
NM_181313.4:c.300A>C	NP_851830.1:p.Ala100=
NR_024048.3:n.711A>C