Canonical Allele Identifier: CA261289

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 42266
• ClinVar RCV Id: RCV000035099
• dbSNP Id: rs387907218
• MyVariant Identifiers: chrX:g.153649015G>C (hg19) ; chrX:g.154420676G>C (hg38)
• PubMed: PMID:4685904 ; PMID:9382096 ; PMID:11896212 ; PMID:12468278

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420676G>C , CM000685.2:g.154420676G>C	GRCh38
NC_000023.10:g.153649015G>C , CM000685.1:g.153649015G>C	GRCh37
NC_000023.9:g.153302209G>C	NCBI36
NG_009634.1:g.14139G>C
NG_009634.2:g.14142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1528G>C
ENST00000698317.1:n.2144G>C
ENST00000698318.1:n.1927G>C
ENST00000698319.1:n.1290G>C
ENST00000698320.1:n.1178G>C
ENST00000470127.2:n.1191G>C
ENST00000475699.6:c.682G>C	ENSP00000419854.3:p.Gly228Arg
ENST00000483674.3:n.600G>C
ENST00000601016.6:c.718G>C MANE Select	ENSP00000469981.1:p.Gly240Arg
ENST00000612012.5:c.676G>C	ENSP00000482070.2:p.Gly226Arg
ENST00000612460.5:c.628G>C	ENSP00000481037.1:p.Gly210Arg
ENST00000614595.2:n.2065G>C
ENST00000615658.5:n.1307G>C
ENST00000616020.5:c.730G>C	ENSP00000483636.2:p.Gly244Arg
ENST00000617701.5:c.*731G>C	ENSP00000481645.1:n.*731G>C
ENST00000651139.1:c.-66G>C	ENSP00000498957.1:n.-66G>C
ENST00000652354.1:c.400G>C	ENSP00000498734.1:p.Gly134Arg
ENST00000652358.1:c.511G>C	ENSP00000498464.1:p.Gly171Arg
ENST00000652390.1:c.637G>C	ENSP00000498858.1:p.Gly213Arg
ENST00000652476.1:n.1384G>C
ENST00000652644.1:c.331G>C	ENSP00000498496.1:p.Gly111Arg
ENST00000652682.1:c.775G>C	ENSP00000498288.1:p.Gly259Arg
ENST00000652685.1:n.1071G>C
ENST00000369776.8:c.628G>C	ENSP00000358791.4:p.Gly210Arg
ENST00000426231.5:c.715G>C
ENST00000475699.5:c.676G>C	ENSP00000419854.2:p.Gly226Arg
ENST00000494912.5:n.1407G>C
ENST00000498029.1:n.176G>C
ENST00000601016.5:c.718G>C	ENSP00000469981.1:p.Gly240Arg
ENST00000612460.4:c.628G>C	ENSP00000481037.1:p.Gly210Arg
ENST00000613002.4:c.586G>C	ENSP00000478154.1:p.Gly196Arg
ENST00000615986.4:c.*446G>C	ENSP00000480133.1:n.*446G>C
NM_000116.4:c.718G>C	NP_000107.1:p.Gly240Arg
NM_001303465.1:c.730G>C	NP_001290394.1:p.Gly244Arg
NM_181311.3:c.628G>C	NP_851828.1:p.Gly210Arg
NM_181312.3:c.676G>C	NP_851829.1:p.Gly226Arg
NM_181313.3:c.586G>C	NP_851830.1:p.Gly196Arg
NR_024048.2:n.1060G>C
XM_006724836.1:c.772G>C	XP_006724899.1:p.Gly258Arg
XM_006724837.1:c.757G>C	XP_006724900.1:p.Gly253Arg
XM_006724839.1:c.640G>C	XP_006724902.1:p.Gly214Arg
XM_006724841.2:c.511G>C	XP_006724904.1:p.Gly171Arg
XM_006724842.2:c.421G>C	XP_006724905.1:p.Gly141Arg
XM_011531189.1:c.559G>C	XP_011529491.1:p.Gly187Arg
XM_011531190.1:c.511G>C	XP_011529492.1:p.Gly171Arg
XM_011531191.1:c.442G>C	XP_011529493.1:p.Gly148Arg
XM_011531192.1:c.439G>C	XP_011529494.1:p.Gly147Arg
XR_938511.1:n.1066G>C
XM_006724841.4:c.511G>C	XP_006724904.1:p.Gly171Arg
XM_006724842.4:c.421G>C	XP_006724905.1:p.Gly141Arg
XM_011531191.2:c.442G>C	XP_011529493.1:p.Gly148Arg
XM_017029761.1:c.703G>C	XP_016885250.1:p.Gly235Arg
XM_017029762.1:c.682G>C	XP_016885251.1:p.Gly228Arg
XM_017029763.1:c.505G>C	XP_016885252.1:p.Gly169Arg
XM_017029764.1:c.439G>C	XP_016885253.1:p.Gly147Arg
XM_017029765.2:c.379G>C	XP_016885254.1:p.Gly127Arg
XM_024452431.1:c.676G>C	XP_024308199.1:p.Gly226Arg
NM_000116.5:c.718G>C MANE Select	NP_000107.1:p.Gly240Arg
NM_001303465.2:c.730G>C	NP_001290394.1:p.Gly244Arg
NM_181311.4:c.628G>C	NP_851828.1:p.Gly210Arg
NM_181312.4:c.676G>C	NP_851829.1:p.Gly226Arg
NM_181313.4:c.586G>C	NP_851830.1:p.Gly196Arg
NR_024048.3:n.1039G>C