Canonical Allele Identifier: CA415184112

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648380G>C (hg19) ; chrX:g.154420041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420041G>C , CM000685.2:g.154420041G>C	GRCh38
NC_000023.10:g.153648380G>C , CM000685.1:g.153648380G>C	GRCh37
NC_000023.9:g.153301574G>C	NCBI36
NG_009634.1:g.13504G>C
NG_009634.2:g.13507G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1403G>C
ENST00000698317.1:n.2019G>C
ENST00000698318.1:n.1802G>C
ENST00000698319.1:n.1165G>C
ENST00000698320.1:n.1053G>C
ENST00000470127.2:n.1066G>C
ENST00000475699.6:c.557G>C	ENSP00000419854.3:p.Arg186Pro
ENST00000483674.3:n.475G>C
ENST00000601016.6:c.593G>C MANE Select	ENSP00000469981.1:p.Arg198Pro
ENST00000612012.5:c.551G>C	ENSP00000482070.2:p.Arg184Pro
ENST00000612460.5:c.503G>C	ENSP00000481037.1:p.Arg168Pro
ENST00000614595.2:n.1940G>C
ENST00000615658.5:n.1182G>C
ENST00000616020.5:c.605G>C	ENSP00000483636.2:p.Arg202Pro
ENST00000617701.5:c.*606G>C	ENSP00000481645.1:n.*606G>C
ENST00000652354.1:c.275G>C	ENSP00000498734.1:p.Arg92Pro
ENST00000652358.1:c.386G>C	ENSP00000498464.1:p.Arg129Pro
ENST00000652390.1:c.512G>C	ENSP00000498858.1:p.Arg171Pro
ENST00000652476.1:n.1259G>C
ENST00000652644.1:c.206G>C	ENSP00000498496.1:p.Arg69Pro
ENST00000652682.1:c.650G>C	ENSP00000498288.1:p.Arg217Pro
ENST00000652685.1:n.946G>C
ENST00000369776.8:c.386G>C	ENSP00000358791.4:p.Arg129Pro
ENST00000426231.5:c.590G>C
ENST00000439735.2:c.500G>C	ENSP00000398193.1:p.Arg167Pro
ENST00000470127.1:n.172G>C
ENST00000475699.5:c.551G>C	ENSP00000419854.2:p.Arg184Pro
ENST00000494912.5:n.1282G>C
ENST00000498029.1:n.51G>C
ENST00000601016.5:c.593G>C	ENSP00000469981.1:p.Arg198Pro
ENST00000612012.4:c.557G>C	ENSP00000482070.1:p.Arg186Pro
ENST00000612460.4:c.503G>C	ENSP00000481037.1:p.Arg168Pro
ENST00000613002.4:c.461G>C	ENSP00000478154.1:p.Arg154Pro
ENST00000613634.4:n.1108G>C
ENST00000615658.4:n.1282G>C
ENST00000615986.4:c.*321G>C	ENSP00000480133.1:n.*321G>C
ENST00000620808.4:c.*179G>C	ENSP00000479311.1:n.*179G>C
NM_000116.4:c.593G>C	NP_000107.1:p.Arg198Pro
NM_001303465.1:c.605G>C	NP_001290394.1:p.Arg202Pro
NM_181311.3:c.503G>C	NP_851828.1:p.Arg168Pro
NM_181312.3:c.551G>C	NP_851829.1:p.Arg184Pro
NM_181313.3:c.461G>C	NP_851830.1:p.Arg154Pro
NR_024048.2:n.935G>C
XM_006724836.1:c.647G>C	XP_006724899.1:p.Arg216Pro
XM_006724837.1:c.515G>C	XP_006724900.1:p.Arg172Pro
XM_006724839.1:c.515G>C	XP_006724902.1:p.Arg172Pro
XM_006724841.2:c.386G>C	XP_006724904.1:p.Arg129Pro
XM_006724842.2:c.296G>C	XP_006724905.1:p.Arg99Pro
XM_011531189.1:c.434G>C	XP_011529491.1:p.Arg145Pro
XM_011531190.1:c.386G>C	XP_011529492.1:p.Arg129Pro
XM_011531191.1:c.317G>C	XP_011529493.1:p.Arg106Pro
XM_011531192.1:c.314G>C	XP_011529494.1:p.Arg105Pro
XR_938511.1:n.941G>C
XM_006724841.4:c.386G>C	XP_006724904.1:p.Arg129Pro
XM_006724842.4:c.296G>C	XP_006724905.1:p.Arg99Pro
XM_011531191.2:c.317G>C	XP_011529493.1:p.Arg106Pro
XM_017029761.1:c.461G>C	XP_016885250.1:p.Arg154Pro
XM_017029762.1:c.557G>C	XP_016885251.1:p.Arg186Pro
XM_017029763.1:c.380G>C	XP_016885252.1:p.Arg127Pro
XM_017029764.1:c.314G>C	XP_016885253.1:p.Arg105Pro
XM_017029765.2:c.254G>C	XP_016885254.1:p.Arg85Pro
XM_024452431.1:c.434G>C	XP_024308199.1:p.Arg145Pro
NM_000116.5:c.593G>C MANE Select	NP_000107.1:p.Arg198Pro
NM_001303465.2:c.605G>C	NP_001290394.1:p.Arg202Pro
NM_181311.4:c.503G>C	NP_851828.1:p.Arg168Pro
NM_181312.4:c.551G>C	NP_851829.1:p.Arg184Pro
NM_181313.4:c.461G>C	NP_851830.1:p.Arg154Pro
NR_024048.3:n.914G>C