Canonical Allele Identifier: CA415184354

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1679261
• ClinVar RCV Id: RCV002226858
• dbSNP Id: rs2148212627
• MyVariant Identifiers: chrX:g.153648419C>A (hg19) ; chrX:g.154420080C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420080C>A , CM000685.2:g.154420080C>A	GRCh38
NC_000023.10:g.153648419C>A , CM000685.1:g.153648419C>A	GRCh37
NC_000023.9:g.153301613C>A	NCBI36
NG_009634.1:g.13543C>A
NG_009634.2:g.13546C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1442C>A
ENST00000698317.1:n.2058C>A
ENST00000698318.1:n.1841C>A
ENST00000698319.1:n.1204C>A
ENST00000698320.1:n.1092C>A
ENST00000470127.2:n.1105C>A
ENST00000475699.6:c.596C>A	ENSP00000419854.3:p.Pro199His
ENST00000483674.3:n.514C>A
ENST00000601016.6:c.632C>A MANE Select	ENSP00000469981.1:p.Pro211His
ENST00000612012.5:c.590C>A	ENSP00000482070.2:p.Pro197His
ENST00000612460.5:c.542C>A	ENSP00000481037.1:p.Pro181His
ENST00000614595.2:n.1979C>A
ENST00000615658.5:n.1221C>A
ENST00000616020.5:c.644C>A	ENSP00000483636.2:p.Pro215His
ENST00000617701.5:c.*645C>A	ENSP00000481645.1:n.*645C>A
ENST00000652354.1:c.314C>A	ENSP00000498734.1:p.Pro105His
ENST00000652358.1:c.425C>A	ENSP00000498464.1:p.Pro142His
ENST00000652390.1:c.551C>A	ENSP00000498858.1:p.Pro184His
ENST00000652476.1:n.1298C>A
ENST00000652644.1:c.245C>A	ENSP00000498496.1:p.Pro82His
ENST00000652682.1:c.689C>A	ENSP00000498288.1:p.Pro230His
ENST00000652685.1:n.985C>A
ENST00000369776.8:c.425C>A	ENSP00000358791.4:p.Pro142His
ENST00000426231.5:c.629C>A
ENST00000439735.2:c.539C>A	ENSP00000398193.1:p.Pro180His
ENST00000470127.1:n.211C>A
ENST00000475699.5:c.590C>A	ENSP00000419854.2:p.Pro197His
ENST00000494912.5:n.1321C>A
ENST00000498029.1:n.90C>A
ENST00000601016.5:c.632C>A	ENSP00000469981.1:p.Pro211His
ENST00000612460.4:c.542C>A	ENSP00000481037.1:p.Pro181His
ENST00000613002.4:c.500C>A	ENSP00000478154.1:p.Pro167His
ENST00000615658.4:n.1321C>A
ENST00000615986.4:c.*360C>A	ENSP00000480133.1:n.*360C>A
NM_000116.4:c.632C>A	NP_000107.1:p.Pro211His
NM_001303465.1:c.644C>A	NP_001290394.1:p.Pro215His
NM_181311.3:c.542C>A	NP_851828.1:p.Pro181His
NM_181312.3:c.590C>A	NP_851829.1:p.Pro197His
NM_181313.3:c.500C>A	NP_851830.1:p.Pro167His
NR_024048.2:n.974C>A
XM_006724836.1:c.686C>A	XP_006724899.1:p.Pro229His
XM_006724837.1:c.554C>A	XP_006724900.1:p.Pro185His
XM_006724839.1:c.554C>A	XP_006724902.1:p.Pro185His
XM_006724841.2:c.425C>A	XP_006724904.1:p.Pro142His
XM_006724842.2:c.335C>A	XP_006724905.1:p.Pro112His
XM_011531189.1:c.473C>A	XP_011529491.1:p.Pro158His
XM_011531190.1:c.425C>A	XP_011529492.1:p.Pro142His
XM_011531191.1:c.356C>A	XP_011529493.1:p.Pro119His
XM_011531192.1:c.353C>A	XP_011529494.1:p.Pro118His
XR_938511.1:n.980C>A
XM_006724841.4:c.425C>A	XP_006724904.1:p.Pro142His
XM_006724842.4:c.335C>A	XP_006724905.1:p.Pro112His
XM_011531191.2:c.356C>A	XP_011529493.1:p.Pro119His
XM_017029761.1:c.500C>A	XP_016885250.1:p.Pro167His
XM_017029762.1:c.596C>A	XP_016885251.1:p.Pro199His
XM_017029763.1:c.419C>A	XP_016885252.1:p.Pro140His
XM_017029764.1:c.353C>A	XP_016885253.1:p.Pro118His
XM_017029765.2:c.293C>A	XP_016885254.1:p.Pro98His
XM_024452431.1:c.473C>A	XP_024308199.1:p.Pro158His
NM_000116.5:c.632C>A MANE Select	NP_000107.1:p.Pro211His
NM_001303465.2:c.644C>A	NP_001290394.1:p.Pro215His
NM_181311.4:c.542C>A	NP_851828.1:p.Pro181His
NM_181312.4:c.590C>A	NP_851829.1:p.Pro197His
NM_181313.4:c.500C>A	NP_851830.1:p.Pro167His
NR_024048.3:n.953C>A