Canonical Allele Identifier: CA415185484

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649058C>G (hg19) ; chrX:g.154420719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420719C>G , CM000685.2:g.154420719C>G	GRCh38
NC_000023.10:g.153649058C>G , CM000685.1:g.153649058C>G	GRCh37
NC_000023.9:g.153302252C>G	NCBI36
NG_009634.1:g.14182C>G
NG_009634.2:g.14185C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1571C>G
ENST00000698317.1:n.2187C>G
ENST00000698318.1:n.1970C>G
ENST00000698319.1:n.1333C>G
ENST00000698320.1:n.1221C>G
ENST00000470127.2:n.1234C>G
ENST00000475699.6:c.725C>G	ENSP00000419854.3:p.Ala242Gly
ENST00000483674.3:n.643C>G
ENST00000601016.6:c.761C>G MANE Select	ENSP00000469981.1:p.Ala254Gly
ENST00000612012.5:c.719C>G	ENSP00000482070.2:p.Ala240Gly
ENST00000612460.5:c.671C>G	ENSP00000481037.1:p.Ala224Gly
ENST00000614595.2:n.2108C>G
ENST00000615658.5:n.1350C>G
ENST00000616020.5:c.773C>G	ENSP00000483636.2:p.Ala258Gly
ENST00000617701.5:c.*774C>G	ENSP00000481645.1:n.*774C>G
ENST00000651139.1:c.-23C>G	ENSP00000498957.1:n.-23C>G
ENST00000652354.1:c.443C>G	ENSP00000498734.1:p.Ala148Gly
ENST00000652358.1:c.554C>G	ENSP00000498464.1:p.Ala185Gly
ENST00000652390.1:c.680C>G	ENSP00000498858.1:p.Ala227Gly
ENST00000652476.1:n.1427C>G
ENST00000652644.1:c.374C>G	ENSP00000498496.1:p.Ala125Gly
ENST00000652682.1:c.818C>G	ENSP00000498288.1:p.Ala273Gly
ENST00000652685.1:n.1114C>G
ENST00000369776.8:c.671C>G	ENSP00000358791.4:p.Ala224Gly
ENST00000426231.5:c.758C>G
ENST00000475699.5:c.719C>G	ENSP00000419854.2:p.Ala240Gly
ENST00000494912.5:n.1450C>G
ENST00000498029.1:n.219C>G
ENST00000601016.5:c.761C>G	ENSP00000469981.1:p.Ala254Gly
ENST00000612460.4:c.671C>G	ENSP00000481037.1:p.Ala224Gly
ENST00000613002.4:c.629C>G	ENSP00000478154.1:p.Ala210Gly
ENST00000615986.4:c.*489C>G	ENSP00000480133.1:n.*489C>G
NM_000116.4:c.761C>G	NP_000107.1:p.Ala254Gly
NM_001303465.1:c.773C>G	NP_001290394.1:p.Ala258Gly
NM_181311.3:c.671C>G	NP_851828.1:p.Ala224Gly
NM_181312.3:c.719C>G	NP_851829.1:p.Ala240Gly
NM_181313.3:c.629C>G	NP_851830.1:p.Ala210Gly
NR_024048.2:n.1103C>G
XM_006724836.1:c.815C>G	XP_006724899.1:p.Ala272Gly
XM_006724837.1:c.800C>G	XP_006724900.1:p.Ala267Gly
XM_006724839.1:c.683C>G	XP_006724902.1:p.Ala228Gly
XM_006724841.2:c.554C>G	XP_006724904.1:p.Ala185Gly
XM_006724842.2:c.464C>G	XP_006724905.1:p.Ala155Gly
XM_011531189.1:c.602C>G	XP_011529491.1:p.Ala201Gly
XM_011531190.1:c.554C>G	XP_011529492.1:p.Ala185Gly
XM_011531191.1:c.485C>G	XP_011529493.1:p.Ala162Gly
XM_011531192.1:c.482C>G	XP_011529494.1:p.Ala161Gly
XR_938511.1:n.1109C>G
XM_006724841.4:c.554C>G	XP_006724904.1:p.Ala185Gly
XM_006724842.4:c.464C>G	XP_006724905.1:p.Ala155Gly
XM_011531191.2:c.485C>G	XP_011529493.1:p.Ala162Gly
XM_017029761.1:c.746C>G	XP_016885250.1:p.Ala249Gly
XM_017029762.1:c.725C>G	XP_016885251.1:p.Ala242Gly
XM_017029763.1:c.548C>G	XP_016885252.1:p.Ala183Gly
XM_017029764.1:c.482C>G	XP_016885253.1:p.Ala161Gly
XM_017029765.2:c.422C>G	XP_016885254.1:p.Ala141Gly
XM_024452431.1:c.719C>G	XP_024308199.1:p.Ala240Gly
NM_000116.5:c.761C>G MANE Select	NP_000107.1:p.Ala254Gly
NM_001303465.2:c.773C>G	NP_001290394.1:p.Ala258Gly
NM_181311.4:c.671C>G	NP_851828.1:p.Ala224Gly
NM_181312.4:c.719C>G	NP_851829.1:p.Ala240Gly
NM_181313.4:c.629C>G	NP_851830.1:p.Ala210Gly
NR_024048.3:n.1082C>G