Canonical Allele Identifier: CA415185539

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649073C>G (hg19) ; chrX:g.154420734C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420734C>G , CM000685.2:g.154420734C>G	GRCh38
NC_000023.10:g.153649073C>G , CM000685.1:g.153649073C>G	GRCh37
NC_000023.9:g.153302267C>G	NCBI36
NG_009634.1:g.14197C>G
NG_009634.2:g.14200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1586C>G
ENST00000698317.1:n.2202C>G
ENST00000698318.1:n.1985C>G
ENST00000698319.1:n.1348C>G
ENST00000698320.1:n.1236C>G
ENST00000470127.2:n.1249C>G
ENST00000475699.6:c.740C>G	ENSP00000419854.3:p.Ala247Gly
ENST00000483674.3:n.658C>G
ENST00000601016.6:c.776C>G MANE Select	ENSP00000469981.1:p.Ala259Gly
ENST00000612012.5:c.734C>G	ENSP00000482070.2:p.Ala245Gly
ENST00000612460.5:c.686C>G	ENSP00000481037.1:p.Ala229Gly
ENST00000614595.2:n.2123C>G
ENST00000615658.5:n.1365C>G
ENST00000616020.5:c.788C>G	ENSP00000483636.2:p.Ala263Gly
ENST00000617701.5:c.*789C>G	ENSP00000481645.1:n.*789C>G
ENST00000651139.1:c.-8C>G	ENSP00000498957.1:n.-8C>G
ENST00000652354.1:c.458C>G	ENSP00000498734.1:p.Ala153Gly
ENST00000652358.1:c.569C>G	ENSP00000498464.1:p.Ala190Gly
ENST00000652390.1:c.695C>G	ENSP00000498858.1:p.Ala232Gly
ENST00000652476.1:n.1442C>G
ENST00000652644.1:c.389C>G	ENSP00000498496.1:p.Ala130Gly
ENST00000652682.1:c.833C>G	ENSP00000498288.1:p.Ala278Gly
ENST00000652685.1:n.1129C>G
ENST00000369776.8:c.686C>G	ENSP00000358791.4:p.Ala229Gly
ENST00000426231.5:c.773C>G
ENST00000475699.5:c.734C>G	ENSP00000419854.2:p.Ala245Gly
ENST00000494912.5:n.1465C>G
ENST00000498029.1:n.234C>G
ENST00000601016.5:c.776C>G	ENSP00000469981.1:p.Ala259Gly
ENST00000612460.4:c.686C>G	ENSP00000481037.1:p.Ala229Gly
ENST00000613002.4:c.644C>G	ENSP00000478154.1:p.Ala215Gly
ENST00000615986.4:c.*504C>G	ENSP00000480133.1:n.*504C>G
NM_000116.4:c.776C>G	NP_000107.1:p.Ala259Gly
NM_001303465.1:c.788C>G	NP_001290394.1:p.Ala263Gly
NM_181311.3:c.686C>G	NP_851828.1:p.Ala229Gly
NM_181312.3:c.734C>G	NP_851829.1:p.Ala245Gly
NM_181313.3:c.644C>G	NP_851830.1:p.Ala215Gly
NR_024048.2:n.1118C>G
XM_006724836.1:c.830C>G	XP_006724899.1:p.Ala277Gly
XM_006724837.1:c.815C>G	XP_006724900.1:p.Ala272Gly
XM_006724839.1:c.698C>G	XP_006724902.1:p.Ala233Gly
XM_006724841.2:c.569C>G	XP_006724904.1:p.Ala190Gly
XM_006724842.2:c.479C>G	XP_006724905.1:p.Ala160Gly
XM_011531189.1:c.617C>G	XP_011529491.1:p.Ala206Gly
XM_011531190.1:c.569C>G	XP_011529492.1:p.Ala190Gly
XM_011531191.1:c.500C>G	XP_011529493.1:p.Ala167Gly
XM_011531192.1:c.497C>G	XP_011529494.1:p.Ala166Gly
XR_938511.1:n.1124C>G
XM_006724841.4:c.569C>G	XP_006724904.1:p.Ala190Gly
XM_006724842.4:c.479C>G	XP_006724905.1:p.Ala160Gly
XM_011531191.2:c.500C>G	XP_011529493.1:p.Ala167Gly
XM_017029761.1:c.761C>G	XP_016885250.1:p.Ala254Gly
XM_017029762.1:c.740C>G	XP_016885251.1:p.Ala247Gly
XM_017029763.1:c.563C>G	XP_016885252.1:p.Ala188Gly
XM_017029764.1:c.497C>G	XP_016885253.1:p.Ala166Gly
XM_017029765.2:c.437C>G	XP_016885254.1:p.Ala146Gly
XM_024452431.1:c.734C>G	XP_024308199.1:p.Ala245Gly
NM_000116.5:c.776C>G MANE Select	NP_000107.1:p.Ala259Gly
NM_001303465.2:c.788C>G	NP_001290394.1:p.Ala263Gly
NM_181311.4:c.686C>G	NP_851828.1:p.Ala229Gly
NM_181312.4:c.734C>G	NP_851829.1:p.Ala245Gly
NM_181313.4:c.644C>G	NP_851830.1:p.Ala215Gly
NR_024048.3:n.1097C>G