Canonical Allele Identifier: CA519278005

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1098207
• ClinVar RCV Id: RCV001420052
• dbSNP Id: rs797040235
• MyVariant Identifiers: chrX:g.153648381C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420042C>G , CM000685.2:g.154420042C>G	GRCh38
NC_000023.10:g.153648381C>G , CM000685.1:g.153648381C>G	GRCh37
NC_000023.9:g.153301575C>G	NCBI36
NG_009634.1:g.13505C>G
NG_009634.2:g.13508C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1404C>G
ENST00000698317.1:n.2020C>G
ENST00000698318.1:n.1803C>G
ENST00000698319.1:n.1166C>G
ENST00000698320.1:n.1054C>G
ENST00000470127.2:n.1067C>G
ENST00000475699.6:c.558C>G	ENSP00000419854.3:p.Arg186=
ENST00000483674.3:n.476C>G
ENST00000601016.6:c.594C>G MANE Select	ENSP00000469981.1:p.Arg198=
ENST00000612012.5:c.552C>G	ENSP00000482070.2:p.Arg184=
ENST00000612460.5:c.504C>G	ENSP00000481037.1:p.Arg168=
ENST00000614595.2:n.1941C>G
ENST00000615658.5:n.1183C>G
ENST00000616020.5:c.606C>G	ENSP00000483636.2:p.Arg202=
ENST00000617701.5:c.*607C>G	ENSP00000481645.1:n.*607C>G
ENST00000652354.1:c.276C>G	ENSP00000498734.1:p.Arg92=
ENST00000652358.1:c.387C>G	ENSP00000498464.1:p.Arg129=
ENST00000652390.1:c.513C>G	ENSP00000498858.1:p.Arg171=
ENST00000652476.1:n.1260C>G
ENST00000652644.1:c.207C>G	ENSP00000498496.1:p.Arg69=
ENST00000652682.1:c.651C>G	ENSP00000498288.1:p.Arg217=
ENST00000652685.1:n.947C>G
ENST00000369776.8:c.387C>G	ENSP00000358791.4:p.Arg129=
ENST00000426231.5:c.591C>G
ENST00000439735.2:c.501C>G	ENSP00000398193.1:p.Arg167=
ENST00000470127.1:n.173C>G
ENST00000475699.5:c.552C>G	ENSP00000419854.2:p.Arg184=
ENST00000494912.5:n.1283C>G
ENST00000498029.1:n.52C>G
ENST00000601016.5:c.594C>G	ENSP00000469981.1:p.Arg198=
ENST00000612012.4:c.558C>G	ENSP00000482070.1:p.Arg186=
ENST00000612460.4:c.504C>G	ENSP00000481037.1:p.Arg168=
ENST00000613002.4:c.462C>G	ENSP00000478154.1:p.Arg154=
ENST00000613634.4:n.1109C>G
ENST00000615658.4:n.1283C>G
ENST00000615986.4:c.*322C>G	ENSP00000480133.1:n.*322C>G
ENST00000620808.4:c.*180C>G	ENSP00000479311.1:n.*180C>G
NM_000116.4:c.594C>G	NP_000107.1:p.Arg198=
NM_001303465.1:c.606C>G	NP_001290394.1:p.Arg202=
NM_181311.3:c.504C>G	NP_851828.1:p.Arg168=
NM_181312.3:c.552C>G	NP_851829.1:p.Arg184=
NM_181313.3:c.462C>G	NP_851830.1:p.Arg154=
NR_024048.2:n.936C>G
XM_006724836.1:c.648C>G	XP_006724899.1:p.Arg216=
XM_006724837.1:c.516C>G	XP_006724900.1:p.Arg172=
XM_006724839.1:c.516C>G	XP_006724902.1:p.Arg172=
XM_006724841.2:c.387C>G	XP_006724904.1:p.Arg129=
XM_006724842.2:c.297C>G	XP_006724905.1:p.Arg99=
XM_011531189.1:c.435C>G	XP_011529491.1:p.Arg145=
XM_011531190.1:c.387C>G	XP_011529492.1:p.Arg129=
XM_011531191.1:c.318C>G	XP_011529493.1:p.Arg106=
XM_011531192.1:c.315C>G	XP_011529494.1:p.Arg105=
XR_938511.1:n.942C>G
XM_006724841.4:c.387C>G	XP_006724904.1:p.Arg129=
XM_006724842.4:c.297C>G	XP_006724905.1:p.Arg99=
XM_011531191.2:c.318C>G	XP_011529493.1:p.Arg106=
XM_017029761.1:c.462C>G	XP_016885250.1:p.Arg154=
XM_017029762.1:c.558C>G	XP_016885251.1:p.Arg186=
XM_017029763.1:c.381C>G	XP_016885252.1:p.Arg127=
XM_017029764.1:c.315C>G	XP_016885253.1:p.Arg105=
XM_017029765.2:c.255C>G	XP_016885254.1:p.Arg85=
XM_024452431.1:c.435C>G	XP_024308199.1:p.Arg145=
NM_000116.5:c.594C>G MANE Select	NP_000107.1:p.Arg198=
NM_001303465.2:c.606C>G	NP_001290394.1:p.Arg202=
NM_181311.4:c.504C>G	NP_851828.1:p.Arg168=
NM_181312.4:c.552C>G	NP_851829.1:p.Arg184=
NM_181313.4:c.462C>G	NP_851830.1:p.Arg154=
NR_024048.3:n.915C>G