Canonical Allele Identifier: CA415185158

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648574A>C (hg19) ; chrX:g.154420235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420235A>C , CM000685.2:g.154420235A>C	GRCh38
NC_000023.10:g.153648574A>C , CM000685.1:g.153648574A>C	GRCh37
NC_000023.9:g.153301768A>C	NCBI36
NG_009634.1:g.13698A>C
NG_009634.2:g.13701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1480A>C
ENST00000698317.1:n.2096A>C
ENST00000698318.1:n.1879A>C
ENST00000698319.1:n.1242A>C
ENST00000698320.1:n.1130A>C
ENST00000470127.2:n.1143A>C
ENST00000475699.6:c.634A>C	ENSP00000419854.3:p.Ser212Arg
ENST00000483674.3:n.552A>C
ENST00000601016.6:c.670A>C MANE Select	ENSP00000469981.1:p.Ser224Arg
ENST00000612012.5:c.628A>C	ENSP00000482070.2:p.Ser210Arg
ENST00000612460.5:c.580A>C	ENSP00000481037.1:p.Ser194Arg
ENST00000614595.2:n.2017A>C
ENST00000615658.5:n.1259A>C
ENST00000616020.5:c.682A>C	ENSP00000483636.2:p.Ser228Arg
ENST00000617701.5:c.*683A>C	ENSP00000481645.1:n.*683A>C
ENST00000652354.1:c.352A>C	ENSP00000498734.1:p.Ser118Arg
ENST00000652358.1:c.463A>C	ENSP00000498464.1:p.Ser155Arg
ENST00000652390.1:c.589A>C	ENSP00000498858.1:p.Ser197Arg
ENST00000652476.1:n.1336A>C
ENST00000652644.1:c.283A>C	ENSP00000498496.1:p.Ser95Arg
ENST00000652682.1:c.727A>C	ENSP00000498288.1:p.Ser243Arg
ENST00000652685.1:n.1023A>C
ENST00000369776.8:c.580A>C	ENSP00000358791.4:p.Ser194Arg
ENST00000426231.5:c.667A>C
ENST00000475699.5:c.628A>C	ENSP00000419854.2:p.Ser210Arg
ENST00000494912.5:n.1359A>C
ENST00000498029.1:n.128A>C
ENST00000601016.5:c.670A>C	ENSP00000469981.1:p.Ser224Arg
ENST00000612460.4:c.580A>C	ENSP00000481037.1:p.Ser194Arg
ENST00000613002.4:c.538A>C	ENSP00000478154.1:p.Ser180Arg
ENST00000615986.4:c.*398A>C	ENSP00000480133.1:n.*398A>C
NM_000116.4:c.670A>C	NP_000107.1:p.Ser224Arg
NM_001303465.1:c.682A>C	NP_001290394.1:p.Ser228Arg
NM_181311.3:c.580A>C	NP_851828.1:p.Ser194Arg
NM_181312.3:c.628A>C	NP_851829.1:p.Ser210Arg
NM_181313.3:c.538A>C	NP_851830.1:p.Ser180Arg
NR_024048.2:n.1012A>C
XM_006724836.1:c.724A>C	XP_006724899.1:p.Ser242Arg
XM_006724837.1:c.709A>C	XP_006724900.1:p.Ser237Arg
XM_006724839.1:c.592A>C	XP_006724902.1:p.Ser198Arg
XM_006724841.2:c.463A>C	XP_006724904.1:p.Ser155Arg
XM_006724842.2:c.373A>C	XP_006724905.1:p.Ser125Arg
XM_011531189.1:c.511A>C	XP_011529491.1:p.Ser171Arg
XM_011531190.1:c.463A>C	XP_011529492.1:p.Ser155Arg
XM_011531191.1:c.394A>C	XP_011529493.1:p.Ser132Arg
XM_011531192.1:c.391A>C	XP_011529494.1:p.Ser131Arg
XR_938511.1:n.1018A>C
XM_006724841.4:c.463A>C	XP_006724904.1:p.Ser155Arg
XM_006724842.4:c.373A>C	XP_006724905.1:p.Ser125Arg
XM_011531191.2:c.394A>C	XP_011529493.1:p.Ser132Arg
XM_017029761.1:c.655A>C	XP_016885250.1:p.Ser219Arg
XM_017029762.1:c.634A>C	XP_016885251.1:p.Ser212Arg
XM_017029763.1:c.457A>C	XP_016885252.1:p.Ser153Arg
XM_017029764.1:c.391A>C	XP_016885253.1:p.Ser131Arg
XM_017029765.2:c.331A>C	XP_016885254.1:p.Ser111Arg
XM_024452431.1:c.628A>C	XP_024308199.1:p.Ser210Arg
NM_000116.5:c.670A>C MANE Select	NP_000107.1:p.Ser224Arg
NM_001303465.2:c.682A>C	NP_001290394.1:p.Ser228Arg
NM_181311.4:c.580A>C	NP_851828.1:p.Ser194Arg
NM_181312.4:c.628A>C	NP_851829.1:p.Ser210Arg
NM_181313.4:c.538A>C	NP_851830.1:p.Ser180Arg
NR_024048.3:n.991A>C