Canonical Allele Identifier: CA10577646

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 234475
• ClinVar RCV Id: RCV000216671 ; RCV003236791
• dbSNP Id: rs876661038
• MyVariant Identifiers: chrX:g.153647880A>G (hg19) ; chrX:g.154419541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419541A>G , CM000685.2:g.154419541A>G	GRCh38
NC_000023.10:g.153647880A>G , CM000685.1:g.153647880A>G	GRCh37
NC_000023.9:g.153301074A>G	NCBI36
NG_009634.1:g.13004A>G
NG_009634.2:g.13007A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.905-2A>G
ENST00000698317.1:n.1521-2A>G
ENST00000698318.1:n.1304-2A>G
ENST00000698319.1:n.665A>G
ENST00000698320.1:n.553A>G
ENST00000470127.2:n.649-2A>G
ENST00000475699.6:c.425-2A>G	ENSP00000419854.3:n.425-2A>G
ENST00000483674.3:n.262-2A>G
ENST00000601016.6:c.461-2A>G MANE Select	ENSP00000469981.1:n.461-2A>G
ENST00000612012.5:c.461-2A>G	ENSP00000482070.2:n.461-2A>G
ENST00000612460.5:c.371-2A>G	ENSP00000481037.1:n.371-2A>G
ENST00000614595.2:n.1808-2A>G
ENST00000615658.5:n.684-2A>G
ENST00000616020.5:c.515-2A>G	ENSP00000483636.2:n.515-2A>G
ENST00000617701.5:c.*189-2A>G	ENSP00000481645.1:n.*189-2A>G
ENST00000652354.1:c.185-2A>G	ENSP00000498734.1:n.185-2A>G
ENST00000652358.1:c.254-2A>G	ENSP00000498464.1:n.254-2A>G
ENST00000652390.1:c.380-2A>G	ENSP00000498858.1:n.380-2A>G
ENST00000652476.1:n.761-2A>G
ENST00000652644.1:c.74-2A>G	ENSP00000498496.1:n.74-2A>G
ENST00000652682.1:c.518-2A>G	ENSP00000498288.1:n.518-2A>G
ENST00000652685.1:n.529-2A>G
ENST00000369776.8:c.296-2A>G	ENSP00000358791.4:n.296-2A>G
ENST00000426231.5:c.377-2A>G
ENST00000439735.2:c.371-5A>G	ENSP00000398193.1:n.371-5A>G
ENST00000470127.1:n.40-2A>G
ENST00000475699.5:c.461-2A>G	ENSP00000419854.2:n.461-2A>G
ENST00000476679.5:n.374-2A>G
ENST00000483674.2:n.80-2A>G
ENST00000483780.5:n.145-2A>G
ENST00000494912.5:n.1067A>G
ENST00000601016.5:c.461-2A>G	ENSP00000469981.1:n.461-2A>G
ENST00000612012.4:c.425-2A>G	ENSP00000482070.1:n.425-2A>G
ENST00000612460.4:c.371-2A>G	ENSP00000481037.1:n.371-2A>G
ENST00000613002.4:c.371-2A>G	ENSP00000478154.1:n.371-2A>G
ENST00000613634.4:n.691-2A>G
ENST00000615658.4:n.784-2A>G
ENST00000615986.4:c.*189-2A>G	ENSP00000480133.1:n.*189-2A>G
ENST00000620808.4:c.*170-491A>G	ENSP00000479311.1:n.*170-491A>G
NM_000116.4:c.461-2A>G	NP_000107.1:n.461-2A>G
NM_001303465.1:c.515-2A>G	NP_001290394.1:n.515-2A>G
NM_181311.3:c.371-2A>G	NP_851828.1:n.371-2A>G
NM_181312.3:c.461-2A>G	NP_851829.1:n.461-2A>G
NM_181313.3:c.371-2A>G	NP_851830.1:n.371-2A>G
NR_024048.2:n.803-2A>G
XM_006724836.1:c.515-2A>G	XP_006724899.1:n.515-2A>G
XM_006724837.1:c.425-2A>G	XP_006724900.1:n.425-2A>G
XM_006724839.1:c.425-2A>G	XP_006724902.1:n.425-2A>G
XM_006724841.2:c.254-2A>G	XP_006724904.1:n.254-2A>G
XM_006724842.2:c.164-2A>G	XP_006724905.1:n.164-2A>G
XM_011531189.1:c.425-491A>G	XP_011529491.1:n.425-491A>G
XM_011531190.1:c.254-2A>G	XP_011529492.1:n.254-2A>G
XM_011531191.1:c.185-2A>G	XP_011529493.1:n.185-2A>G
XM_011531192.1:c.182-2A>G	XP_011529494.1:n.182-2A>G
XR_938511.1:n.728-2A>G
XM_006724841.4:c.254-2A>G	XP_006724904.1:n.254-2A>G
XM_006724842.4:c.164-2A>G	XP_006724905.1:n.164-2A>G
XM_011531191.2:c.185-2A>G	XP_011529493.1:n.185-2A>G
XM_017029761.1:c.371-2A>G	XP_016885250.1:n.371-2A>G
XM_017029762.1:c.425-2A>G	XP_016885251.1:n.425-2A>G
XM_017029763.1:c.371-491A>G	XP_016885252.1:n.371-491A>G
XM_017029764.1:c.182-2A>G	XP_016885253.1:n.182-2A>G
XM_017029765.2:c.164-2A>G	XP_016885254.1:n.164-2A>G
XM_024452431.1:c.425-491A>G	XP_024308199.1:n.425-491A>G
NM_000116.5:c.461-2A>G MANE Select	NP_000107.1:n.461-2A>G
NM_001303465.2:c.515-2A>G	NP_001290394.1:n.515-2A>G
NM_181311.4:c.371-2A>G	NP_851828.1:n.371-2A>G
NM_181312.4:c.461-2A>G	NP_851829.1:n.461-2A>G
NM_181313.4:c.371-2A>G	NP_851830.1:n.371-2A>G
NR_024048.3:n.782-2A>G