Canonical Allele Identifier: CA415181145

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641851A>C (hg19) ; chrX:g.154413514A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413514A>C , CM000685.2:g.154413514A>C	GRCh38
NC_000023.10:g.153641851A>C , CM000685.1:g.153641851A>C	GRCh37
NC_000023.9:g.153295045A>C	NCBI36
NG_009634.1:g.6975A>C
NG_012884.2:g.3575T>G
NG_009634.2:g.6980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.851A>C
ENST00000698235.1:n.391A>C
ENST00000698317.1:n.1377A>C
ENST00000698318.1:n.1250A>C
ENST00000470127.2:n.595A>C
ENST00000475699.6:c.371A>C	ENSP00000419854.3:p.Lys124Thr
ENST00000476800.2:n.1503A>C
ENST00000483674.3:n.208A>C
ENST00000601016.6:c.317A>C MANE Select	ENSP00000469981.1:p.Lys106Thr
ENST00000612012.5:c.317A>C	ENSP00000482070.2:p.Lys106Thr
ENST00000612460.5:c.317A>C	ENSP00000481037.1:p.Lys106Thr
ENST00000614595.2:n.1754A>C
ENST00000615658.5:n.630A>C
ENST00000616020.5:c.371A>C	ENSP00000483636.2:p.Lys124Thr
ENST00000617701.5:c.*135A>C	ENSP00000481645.1:n.*135A>C
ENST00000621647.2:n.599A>C
ENST00000652354.1:c.41A>C	ENSP00000498734.1:p.Lys14Thr
ENST00000652358.1:c.110A>C	ENSP00000498464.1:p.Lys37Thr
ENST00000652390.1:c.236A>C	ENSP00000498858.1:p.Lys79Thr
ENST00000652476.1:n.707A>C
ENST00000652682.1:c.317A>C	ENSP00000498288.1:p.Lys106Thr
ENST00000652685.1:n.475A>C
ENST00000369776.8:c.242A>C	ENSP00000358791.4:p.Lys81Thr
ENST00000426231.5:c.233A>C
ENST00000439735.2:c.317A>C	ENSP00000398193.1:p.Lys106Thr
ENST00000475699.5:c.317A>C	ENSP00000419854.2:p.Lys106Thr
ENST00000476679.5:n.230A>C
ENST00000476800.1:n.424A>C
ENST00000479875.1:n.346A>C
ENST00000483674.2:n.26A>C
ENST00000483780.5:n.91A>C
ENST00000601016.5:c.317A>C	ENSP00000469981.1:p.Lys106Thr
ENST00000612012.4:c.371A>C	ENSP00000482070.1:p.Lys124Thr
ENST00000612460.4:c.317A>C	ENSP00000481037.1:p.Lys106Thr
ENST00000613002.4:c.317A>C	ENSP00000478154.1:p.Lys106Thr
ENST00000613634.4:n.637A>C
ENST00000615658.4:n.730A>C
ENST00000615986.4:c.*135A>C	ENSP00000480133.1:n.*135A>C
ENST00000616020.4:c.371A>C	ENSP00000483636.1:p.Lys124Thr
ENST00000617701.4:c.*147A>C	ENSP00000481645.1:n.*147A>C
ENST00000620808.4:c.*116A>C	ENSP00000479311.1:n.*116A>C
ENST00000621647.1:n.831A>C
NM_000116.4:c.317A>C	NP_000107.1:p.Lys106Thr
NM_001303465.1:c.371A>C	NP_001290394.1:p.Lys124Thr
NM_181311.3:c.317A>C	NP_851828.1:p.Lys106Thr
NM_181312.3:c.317A>C	NP_851829.1:p.Lys106Thr
NM_181313.3:c.317A>C	NP_851830.1:p.Lys106Thr
NR_024048.2:n.749A>C
XM_006724836.1:c.371A>C	XP_006724899.1:p.Lys124Thr
XM_006724837.1:c.371A>C	XP_006724900.1:p.Lys124Thr
XM_006724839.1:c.371A>C	XP_006724902.1:p.Lys124Thr
XM_006724841.2:c.110A>C	XP_006724904.1:p.Lys37Thr
XM_006724842.2:c.110A>C	XP_006724905.1:p.Lys37Thr
XM_011531189.1:c.371A>C	XP_011529491.1:p.Lys124Thr
XM_011531190.1:c.110A>C	XP_011529492.1:p.Lys37Thr
XM_011531191.1:c.41A>C	XP_011529493.1:p.Lys14Thr
XM_011531192.1:c.38A>C	XP_011529494.1:p.Lys13Thr
XR_938511.1:n.674A>C
XM_006724841.4:c.110A>C	XP_006724904.1:p.Lys37Thr
XM_006724842.4:c.110A>C	XP_006724905.1:p.Lys37Thr
XM_011531191.2:c.41A>C	XP_011529493.1:p.Lys14Thr
XM_017029761.1:c.317A>C	XP_016885250.1:p.Lys106Thr
XM_017029762.1:c.371A>C	XP_016885251.1:p.Lys124Thr
XM_017029763.1:c.317A>C	XP_016885252.1:p.Lys106Thr
XM_017029764.1:c.38A>C	XP_016885253.1:p.Lys13Thr
XM_017029765.2:c.110A>C	XP_016885254.1:p.Lys37Thr
XM_024452431.1:c.371A>C	XP_024308199.1:p.Lys124Thr
NM_000116.5:c.317A>C MANE Select	NP_000107.1:p.Lys106Thr
NM_001303465.2:c.371A>C	NP_001290394.1:p.Lys124Thr
NM_181311.4:c.317A>C	NP_851828.1:p.Lys106Thr
NM_181312.4:c.317A>C	NP_851829.1:p.Lys106Thr
NM_181313.4:c.317A>C	NP_851830.1:p.Lys106Thr
NR_024048.3:n.728A>C