Canonical Allele Identifier: CA913191262

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 596123
• ClinVar RCV Id: RCV002535243
• dbSNP Id: rs1569552708

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413255G>C , CM000685.2:g.154413255G>C	GRCh38
NC_000023.10:g.153641592G>C , CM000685.1:g.153641592G>C	GRCh37
NC_000023.9:g.153294786G>C	NCBI36
NG_009634.1:g.6716G>C
NG_012884.2:g.3834C>G
NG_009634.2:g.6721G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.715G>C
ENST00000698235.1:n.274G>C
ENST00000698317.1:n.1241G>C
ENST00000698318.1:n.1102G>C
ENST00000470127.2:n.336G>C
ENST00000475699.6:c.338+3G>C	ENSP00000419854.3:n.338+3G>C
ENST00000476800.2:n.1244G>C
ENST00000483674.3:n.175+3G>C
ENST00000601016.6:c.284+3G>C MANE Select	ENSP00000469981.1:n.284+3G>C
ENST00000612012.5:c.284+3G>C	ENSP00000482070.2:n.284+3G>C
ENST00000612460.5:c.284+3G>C	ENSP00000481037.1:n.284+3G>C
ENST00000614595.2:n.1637G>C
ENST00000615658.5:n.597+3G>C
ENST00000616020.5:c.338+3G>C	ENSP00000483636.2:n.338+3G>C
ENST00000617701.5:c.287G>C	ENSP00000481645.1:p.Ter96Ser
ENST00000621647.2:n.340G>C
ENST00000652354.1:c.8+3G>C	ENSP00000498734.1:n.8+3G>C
ENST00000652358.1:c.-8G>C	ENSP00000498464.1:n.-8G>C
ENST00000652390.1:c.203+3G>C	ENSP00000498858.1:n.203+3G>C
ENST00000652476.1:n.448G>C
ENST00000652682.1:c.284+3G>C	ENSP00000498288.1:n.284+3G>C
ENST00000652685.1:n.339G>C
ENST00000369776.8:c.209+3G>C	ENSP00000358791.4:n.209+3G>C
ENST00000426231.5:c.103G>C
ENST00000439735.2:c.284+3G>C	ENSP00000398193.1:n.284+3G>C
ENST00000475699.5:c.284+3G>C	ENSP00000419854.2:n.284+3G>C
ENST00000476679.5:n.197+3G>C
ENST00000476800.1:n.165G>C
ENST00000479875.1:n.313+3G>C
ENST00000483780.5:n.58+3G>C
ENST00000601016.5:c.284+3G>C	ENSP00000469981.1:n.284+3G>C
ENST00000612012.4:c.338+3G>C	ENSP00000482070.1:n.338+3G>C
ENST00000612460.4:c.284+3G>C	ENSP00000481037.1:n.284+3G>C
ENST00000613002.4:c.284+3G>C	ENSP00000478154.1:n.284+3G>C
ENST00000613634.4:n.604+3G>C
ENST00000615658.4:n.613G>C
ENST00000615986.4:c.287G>C	ENSP00000480133.1:p.Ter96Ser
ENST00000616020.4:c.338+3G>C	ENSP00000483636.1:n.338+3G>C
ENST00000617701.4:c.287G>C	ENSP00000481645.1:p.Ter96Ser
ENST00000620808.4:c.287G>C	ENSP00000479311.1:p.Ter96Ser
ENST00000621647.1:n.572G>C
NM_000116.4:c.284+3G>C	NP_000107.1:n.284+3G>C
NM_001303465.1:c.338+3G>C	NP_001290394.1:n.338+3G>C
NM_181311.3:c.284+3G>C	NP_851828.1:n.284+3G>C
NM_181312.3:c.284+3G>C	NP_851829.1:n.284+3G>C
NM_181313.3:c.284+3G>C	NP_851830.1:n.284+3G>C
NR_024048.2:n.613G>C
XM_006724836.1:c.338+3G>C	XP_006724899.1:n.338+3G>C
XM_006724837.1:c.338+3G>C	XP_006724900.1:n.338+3G>C
XM_006724839.1:c.338+3G>C	XP_006724902.1:n.338+3G>C
XM_006724841.2:c.-8G>C	XP_006724904.1:n.-8G>C
XM_006724842.2:c.-8G>C	XP_006724905.1:n.-8G>C
XM_011531189.1:c.338+3G>C	XP_011529491.1:n.338+3G>C
XM_011531190.1:c.-8G>C	XP_011529492.1:n.-8G>C
XM_011531191.1:c.8+3G>C	XP_011529493.1:n.8+3G>C
XM_011531192.1:c.-111G>C	XP_011529494.1:n.-111G>C
XR_938511.1:n.641+3G>C
XM_006724841.4:c.-8G>C	XP_006724904.1:n.-8G>C
XM_006724842.4:c.-8G>C	XP_006724905.1:n.-8G>C
XM_011531191.2:c.8+3G>C	XP_011529493.1:n.8+3G>C
XM_017029761.1:c.284+3G>C	XP_016885250.1:n.284+3G>C
XM_017029762.1:c.338+3G>C	XP_016885251.1:n.338+3G>C
XM_017029763.1:c.284+3G>C	XP_016885252.1:n.284+3G>C
XM_017029764.1:c.-111G>C	XP_016885253.1:n.-111G>C
XM_017029765.2:c.-8G>C	XP_016885254.1:n.-8G>C
XM_024452431.1:c.338+3G>C	XP_024308199.1:n.338+3G>C
NM_000116.5:c.284+3G>C MANE Select	NP_000107.1:n.284+3G>C
NM_001303465.2:c.338+3G>C	NP_001290394.1:n.338+3G>C
NM_181311.4:c.284+3G>C	NP_851828.1:n.284+3G>C
NM_181312.4:c.284+3G>C	NP_851829.1:n.284+3G>C
NM_181313.4:c.284+3G>C	NP_851830.1:n.284+3G>C
NR_024048.3:n.592G>C