Canonical Allele Identifier: CA415182086

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641892C>T (hg19) ; chrX:g.154413555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413555C>T , CM000685.2:g.154413555C>T	GRCh38
NC_000023.10:g.153641892C>T , CM000685.1:g.153641892C>T	GRCh37
NC_000023.9:g.153295086C>T	NCBI36
NG_009634.1:g.7016C>T
NG_012884.2:g.3534G>A
NG_009634.2:g.7021C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.892C>T
ENST00000698235.1:n.432C>T
ENST00000698317.1:n.1418C>T
ENST00000698318.1:n.1291C>T
ENST00000470127.2:n.636C>T
ENST00000475699.6:c.412C>T	ENSP00000419854.3:p.Pro138Ser
ENST00000476800.2:n.1544C>T
ENST00000483674.3:n.249C>T
ENST00000601016.6:c.358C>T MANE Select	ENSP00000469981.1:p.Pro120Ser
ENST00000612012.5:c.358C>T	ENSP00000482070.2:p.Pro120Ser
ENST00000612460.5:c.358C>T	ENSP00000481037.1:p.Pro120Ser
ENST00000614595.2:n.1795C>T
ENST00000615658.5:n.671C>T
ENST00000616020.5:c.412C>T	ENSP00000483636.2:p.Pro138Ser
ENST00000617701.5:c.*176C>T	ENSP00000481645.1:n.*176C>T
ENST00000621647.2:n.640C>T
ENST00000652354.1:c.82C>T	ENSP00000498734.1:p.Pro28Ser
ENST00000652358.1:c.151C>T	ENSP00000498464.1:p.Pro51Ser
ENST00000652390.1:c.277C>T	ENSP00000498858.1:p.Pro93Ser
ENST00000652476.1:n.748C>T
ENST00000652644.1:c.4C>T	ENSP00000498496.1:p.Pro2Ser
ENST00000652682.1:c.358C>T	ENSP00000498288.1:p.Pro120Ser
ENST00000652685.1:n.516C>T
ENST00000369776.8:c.283C>T	ENSP00000358791.4:p.Pro95Ser
ENST00000426231.5:c.274C>T
ENST00000439735.2:c.358C>T	ENSP00000398193.1:p.Pro120Ser
ENST00000470127.1:n.27C>T
ENST00000475699.5:c.358C>T	ENSP00000419854.2:p.Pro120Ser
ENST00000476679.5:n.271C>T
ENST00000476800.1:n.465C>T
ENST00000479875.1:n.387C>T
ENST00000483674.2:n.67C>T
ENST00000483780.5:n.132C>T
ENST00000601016.5:c.358C>T	ENSP00000469981.1:p.Pro120Ser
ENST00000612012.4:c.412C>T	ENSP00000482070.1:p.Pro138Ser
ENST00000612460.4:c.358C>T	ENSP00000481037.1:p.Pro120Ser
ENST00000613002.4:c.358C>T	ENSP00000478154.1:p.Pro120Ser
ENST00000613634.4:n.678C>T
ENST00000615658.4:n.771C>T
ENST00000615986.4:c.*176C>T	ENSP00000480133.1:n.*176C>T
ENST00000616020.4:c.412C>T	ENSP00000483636.1:p.Pro138Ser
ENST00000617701.4:c.*188C>T	ENSP00000481645.1:n.*188C>T
ENST00000620808.4:c.*157C>T	ENSP00000479311.1:n.*157C>T
ENST00000621647.1:n.872C>T
NM_000116.4:c.358C>T	NP_000107.1:p.Pro120Ser
NM_001303465.1:c.412C>T	NP_001290394.1:p.Pro138Ser
NM_181311.3:c.358C>T	NP_851828.1:p.Pro120Ser
NM_181312.3:c.358C>T	NP_851829.1:p.Pro120Ser
NM_181313.3:c.358C>T	NP_851830.1:p.Pro120Ser
NR_024048.2:n.790C>T
XM_006724836.1:c.412C>T	XP_006724899.1:p.Pro138Ser
XM_006724837.1:c.412C>T	XP_006724900.1:p.Pro138Ser
XM_006724839.1:c.412C>T	XP_006724902.1:p.Pro138Ser
XM_006724841.2:c.151C>T	XP_006724904.1:p.Pro51Ser
XM_006724842.2:c.151C>T	XP_006724905.1:p.Pro51Ser
XM_011531189.1:c.412C>T	XP_011529491.1:p.Pro138Ser
XM_011531190.1:c.151C>T	XP_011529492.1:p.Pro51Ser
XM_011531191.1:c.82C>T	XP_011529493.1:p.Pro28Ser
XM_011531192.1:c.79C>T	XP_011529494.1:p.Pro27Ser
XR_938511.1:n.715C>T
XM_006724841.4:c.151C>T	XP_006724904.1:p.Pro51Ser
XM_006724842.4:c.151C>T	XP_006724905.1:p.Pro51Ser
XM_011531191.2:c.82C>T	XP_011529493.1:p.Pro28Ser
XM_017029761.1:c.358C>T	XP_016885250.1:p.Pro120Ser
XM_017029762.1:c.412C>T	XP_016885251.1:p.Pro138Ser
XM_017029763.1:c.358C>T	XP_016885252.1:p.Pro120Ser
XM_017029764.1:c.79C>T	XP_016885253.1:p.Pro27Ser
XM_017029765.2:c.151C>T	XP_016885254.1:p.Pro51Ser
XM_024452431.1:c.412C>T	XP_024308199.1:p.Pro138Ser
NM_000116.5:c.358C>T MANE Select	NP_000107.1:p.Pro120Ser
NM_001303465.2:c.412C>T	NP_001290394.1:p.Pro138Ser
NM_181311.4:c.358C>T	NP_851828.1:p.Pro120Ser
NM_181312.4:c.358C>T	NP_851829.1:p.Pro120Ser
NM_181313.4:c.358C>T	NP_851830.1:p.Pro120Ser
NR_024048.3:n.769C>T