Canonical Allele Identifier: CA415185611

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 430910
• ClinVar RCV Id: RCV000523344 ; RCV000611350
• dbSNP Id: rs1557194488
• MyVariant Identifiers: chrX:g.153649254A>G (hg19) ; chrX:g.154420915A>G (hg38)
• PubMed: PMID:29077208

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420915A>G , CM000685.2:g.154420915A>G	GRCh38
NC_000023.10:g.153649254A>G , CM000685.1:g.153649254A>G	GRCh37
NC_000023.9:g.153302448A>G	NCBI36
NG_009634.1:g.14378A>G
NG_009634.2:g.14381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1600A>G
ENST00000698317.1:n.2216A>G
ENST00000698318.1:n.1999A>G
ENST00000698319.1:n.1362A>G
ENST00000698320.1:n.1417A>G
ENST00000470127.2:n.1263A>G
ENST00000475699.6:c.754A>G	ENSP00000419854.3:p.Lys252Glu
ENST00000483674.3:n.672A>G
ENST00000601016.6:c.790A>G MANE Select	ENSP00000469981.1:p.Lys264Glu
ENST00000612012.5:c.748A>G	ENSP00000482070.2:p.Lys250Glu
ENST00000612460.5:c.700A>G	ENSP00000481037.1:p.Lys234Glu
ENST00000614595.2:n.2137A>G
ENST00000615658.5:n.1379A>G
ENST00000616020.5:c.802A>G	ENSP00000483636.2:p.Lys268Glu
ENST00000617701.5:c.*803A>G	ENSP00000481645.1:n.*803A>G
ENST00000651139.1:c.7A>G	ENSP00000498957.1:p.Lys3Glu
ENST00000652354.1:c.472A>G	ENSP00000498734.1:p.Lys158Glu
ENST00000652358.1:c.583A>G	ENSP00000498464.1:p.Lys195Glu
ENST00000652390.1:c.709A>G	ENSP00000498858.1:p.Lys237Glu
ENST00000652476.1:n.1456A>G
ENST00000652644.1:c.403A>G	ENSP00000498496.1:p.Lys135Glu
ENST00000652682.1:c.847A>G	ENSP00000498288.1:p.Lys283Glu
ENST00000652685.1:n.1143A>G
ENST00000369776.8:c.700A>G	ENSP00000358791.4:p.Lys234Glu
ENST00000426231.5:c.787A>G
ENST00000475699.5:c.748A>G	ENSP00000419854.2:p.Lys250Glu
ENST00000494912.5:n.1479A>G
ENST00000498029.1:n.248A>G
ENST00000601016.5:c.790A>G	ENSP00000469981.1:p.Lys264Glu
ENST00000612460.4:c.700A>G	ENSP00000481037.1:p.Lys234Glu
ENST00000613002.4:c.658A>G	ENSP00000478154.1:p.Lys220Glu
ENST00000615986.4:c.*518A>G	ENSP00000480133.1:n.*518A>G
NM_000116.4:c.790A>G	NP_000107.1:p.Lys264Glu
NM_001303465.1:c.802A>G	NP_001290394.1:p.Lys268Glu
NM_181311.3:c.700A>G	NP_851828.1:p.Lys234Glu
NM_181312.3:c.748A>G	NP_851829.1:p.Lys250Glu
NM_181313.3:c.658A>G	NP_851830.1:p.Lys220Glu
NR_024048.2:n.1132A>G
XM_006724836.1:c.844A>G	XP_006724899.1:p.Lys282Glu
XM_006724837.1:c.829A>G	XP_006724900.1:p.Lys277Glu
XM_006724839.1:c.712A>G	XP_006724902.1:p.Lys238Glu
XM_006724841.2:c.583A>G	XP_006724904.1:p.Lys195Glu
XM_006724842.2:c.493A>G	XP_006724905.1:p.Lys165Glu
XM_011531189.1:c.631A>G	XP_011529491.1:p.Lys211Glu
XM_011531190.1:c.583A>G	XP_011529492.1:p.Lys195Glu
XM_011531191.1:c.514A>G	XP_011529493.1:p.Lys172Glu
XM_011531192.1:c.511A>G	XP_011529494.1:p.Lys171Glu
XR_938511.1:n.1138A>G
XM_006724841.4:c.583A>G	XP_006724904.1:p.Lys195Glu
XM_006724842.4:c.493A>G	XP_006724905.1:p.Lys165Glu
XM_011531191.2:c.514A>G	XP_011529493.1:p.Lys172Glu
XM_017029761.1:c.775A>G	XP_016885250.1:p.Lys259Glu
XM_017029762.1:c.754A>G	XP_016885251.1:p.Lys252Glu
XM_017029763.1:c.577A>G	XP_016885252.1:p.Lys193Glu
XM_017029764.1:c.511A>G	XP_016885253.1:p.Lys171Glu
XM_017029765.2:c.451A>G	XP_016885254.1:p.Lys151Glu
XM_024452431.1:c.748A>G	XP_024308199.1:p.Lys250Glu
NM_000116.5:c.790A>G MANE Select	NP_000107.1:p.Lys264Glu
NM_001303465.2:c.802A>G	NP_001290394.1:p.Lys268Glu
NM_181311.4:c.700A>G	NP_851828.1:p.Lys234Glu
NM_181312.4:c.748A>G	NP_851829.1:p.Lys250Glu
NM_181313.4:c.658A>G	NP_851830.1:p.Lys220Glu
NR_024048.3:n.1111A>G