Canonical Allele Identifier: CA415184431

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068585385
• MyVariant Identifiers: chrX:g.153648430G>A (hg19) ; chrX:g.154420091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420091G>A , CM000685.2:g.154420091G>A	GRCh38
NC_000023.10:g.153648430G>A , CM000685.1:g.153648430G>A	GRCh37
NC_000023.9:g.153301624G>A	NCBI36
NG_009634.1:g.13554G>A
NG_009634.2:g.13557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1453G>A
ENST00000698317.1:n.2069G>A
ENST00000698318.1:n.1852G>A
ENST00000698319.1:n.1215G>A
ENST00000698320.1:n.1103G>A
ENST00000470127.2:n.1116G>A
ENST00000475699.6:c.607G>A	ENSP00000419854.3:p.Val203Ile
ENST00000483674.3:n.525G>A
ENST00000601016.6:c.643G>A MANE Select	ENSP00000469981.1:p.Val215Ile
ENST00000612012.5:c.601G>A	ENSP00000482070.2:p.Val201Ile
ENST00000612460.5:c.553G>A	ENSP00000481037.1:p.Val185Ile
ENST00000614595.2:n.1990G>A
ENST00000615658.5:n.1232G>A
ENST00000616020.5:c.655G>A	ENSP00000483636.2:p.Val219Ile
ENST00000617701.5:c.*656G>A	ENSP00000481645.1:n.*656G>A
ENST00000652354.1:c.325G>A	ENSP00000498734.1:p.Val109Ile
ENST00000652358.1:c.436G>A	ENSP00000498464.1:p.Val146Ile
ENST00000652390.1:c.562G>A	ENSP00000498858.1:p.Val188Ile
ENST00000652476.1:n.1309G>A
ENST00000652644.1:c.256G>A	ENSP00000498496.1:p.Val86Ile
ENST00000652682.1:c.700G>A	ENSP00000498288.1:p.Val234Ile
ENST00000652685.1:n.996G>A
ENST00000369776.8:c.436G>A	ENSP00000358791.4:p.Val146Ile
ENST00000426231.5:c.640G>A
ENST00000439735.2:c.550G>A	ENSP00000398193.1:p.Val184Ile
ENST00000470127.1:n.222G>A
ENST00000475699.5:c.601G>A	ENSP00000419854.2:p.Val201Ile
ENST00000494912.5:n.1332G>A
ENST00000498029.1:n.101G>A
ENST00000601016.5:c.643G>A	ENSP00000469981.1:p.Val215Ile
ENST00000612460.4:c.553G>A	ENSP00000481037.1:p.Val185Ile
ENST00000613002.4:c.511G>A	ENSP00000478154.1:p.Val171Ile
ENST00000615986.4:c.*371G>A	ENSP00000480133.1:n.*371G>A
NM_000116.4:c.643G>A	NP_000107.1:p.Val215Ile
NM_001303465.1:c.655G>A	NP_001290394.1:p.Val219Ile
NM_181311.3:c.553G>A	NP_851828.1:p.Val185Ile
NM_181312.3:c.601G>A	NP_851829.1:p.Val201Ile
NM_181313.3:c.511G>A	NP_851830.1:p.Val171Ile
NR_024048.2:n.985G>A
XM_006724836.1:c.697G>A	XP_006724899.1:p.Val233Ile
XM_006724837.1:c.565G>A	XP_006724900.1:p.Val189Ile
XM_006724839.1:c.565G>A	XP_006724902.1:p.Val189Ile
XM_006724841.2:c.436G>A	XP_006724904.1:p.Val146Ile
XM_006724842.2:c.346G>A	XP_006724905.1:p.Val116Ile
XM_011531189.1:c.484G>A	XP_011529491.1:p.Val162Ile
XM_011531190.1:c.436G>A	XP_011529492.1:p.Val146Ile
XM_011531191.1:c.367G>A	XP_011529493.1:p.Val123Ile
XM_011531192.1:c.364G>A	XP_011529494.1:p.Val122Ile
XR_938511.1:n.991G>A
XM_006724841.4:c.436G>A	XP_006724904.1:p.Val146Ile
XM_006724842.4:c.346G>A	XP_006724905.1:p.Val116Ile
XM_011531191.2:c.367G>A	XP_011529493.1:p.Val123Ile
XM_017029761.1:c.511G>A	XP_016885250.1:p.Val171Ile
XM_017029762.1:c.607G>A	XP_016885251.1:p.Val203Ile
XM_017029763.1:c.430G>A	XP_016885252.1:p.Val144Ile
XM_017029764.1:c.364G>A	XP_016885253.1:p.Val122Ile
XM_017029765.2:c.304G>A	XP_016885254.1:p.Val102Ile
XM_024452431.1:c.484G>A	XP_024308199.1:p.Val162Ile
NM_000116.5:c.643G>A MANE Select	NP_000107.1:p.Val215Ile
NM_001303465.2:c.655G>A	NP_001290394.1:p.Val219Ile
NM_181311.4:c.553G>A	NP_851828.1:p.Val185Ile
NM_181312.4:c.601G>A	NP_851829.1:p.Val201Ile
NM_181313.4:c.511G>A	NP_851830.1:p.Val171Ile
NR_024048.3:n.964G>A