Canonical Allele Identifier: CA415185506

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649065C>A (hg19) ; chrX:g.154420726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420726C>A , CM000685.2:g.154420726C>A	GRCh38
NC_000023.10:g.153649065C>A , CM000685.1:g.153649065C>A	GRCh37
NC_000023.9:g.153302259C>A	NCBI36
NG_009634.1:g.14189C>A
NG_009634.2:g.14192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1578C>A
ENST00000698317.1:n.2194C>A
ENST00000698318.1:n.1977C>A
ENST00000698319.1:n.1340C>A
ENST00000698320.1:n.1228C>A
ENST00000470127.2:n.1241C>A
ENST00000475699.6:c.732C>A	ENSP00000419854.3:p.Asn244Lys
ENST00000483674.3:n.650C>A
ENST00000601016.6:c.768C>A MANE Select	ENSP00000469981.1:p.Asn256Lys
ENST00000612012.5:c.726C>A	ENSP00000482070.2:p.Asn242Lys
ENST00000612460.5:c.678C>A	ENSP00000481037.1:p.Asn226Lys
ENST00000614595.2:n.2115C>A
ENST00000615658.5:n.1357C>A
ENST00000616020.5:c.780C>A	ENSP00000483636.2:p.Asn260Lys
ENST00000617701.5:c.*781C>A	ENSP00000481645.1:n.*781C>A
ENST00000651139.1:c.-16C>A	ENSP00000498957.1:n.-16C>A
ENST00000652354.1:c.450C>A	ENSP00000498734.1:p.Asn150Lys
ENST00000652358.1:c.561C>A	ENSP00000498464.1:p.Asn187Lys
ENST00000652390.1:c.687C>A	ENSP00000498858.1:p.Asn229Lys
ENST00000652476.1:n.1434C>A
ENST00000652644.1:c.381C>A	ENSP00000498496.1:p.Asn127Lys
ENST00000652682.1:c.825C>A	ENSP00000498288.1:p.Asn275Lys
ENST00000652685.1:n.1121C>A
ENST00000369776.8:c.678C>A	ENSP00000358791.4:p.Asn226Lys
ENST00000426231.5:c.765C>A
ENST00000475699.5:c.726C>A	ENSP00000419854.2:p.Asn242Lys
ENST00000494912.5:n.1457C>A
ENST00000498029.1:n.226C>A
ENST00000601016.5:c.768C>A	ENSP00000469981.1:p.Asn256Lys
ENST00000612460.4:c.678C>A	ENSP00000481037.1:p.Asn226Lys
ENST00000613002.4:c.636C>A	ENSP00000478154.1:p.Asn212Lys
ENST00000615986.4:c.*496C>A	ENSP00000480133.1:n.*496C>A
NM_000116.4:c.768C>A	NP_000107.1:p.Asn256Lys
NM_001303465.1:c.780C>A	NP_001290394.1:p.Asn260Lys
NM_181311.3:c.678C>A	NP_851828.1:p.Asn226Lys
NM_181312.3:c.726C>A	NP_851829.1:p.Asn242Lys
NM_181313.3:c.636C>A	NP_851830.1:p.Asn212Lys
NR_024048.2:n.1110C>A
XM_006724836.1:c.822C>A	XP_006724899.1:p.Asn274Lys
XM_006724837.1:c.807C>A	XP_006724900.1:p.Asn269Lys
XM_006724839.1:c.690C>A	XP_006724902.1:p.Asn230Lys
XM_006724841.2:c.561C>A	XP_006724904.1:p.Asn187Lys
XM_006724842.2:c.471C>A	XP_006724905.1:p.Asn157Lys
XM_011531189.1:c.609C>A	XP_011529491.1:p.Asn203Lys
XM_011531190.1:c.561C>A	XP_011529492.1:p.Asn187Lys
XM_011531191.1:c.492C>A	XP_011529493.1:p.Asn164Lys
XM_011531192.1:c.489C>A	XP_011529494.1:p.Asn163Lys
XR_938511.1:n.1116C>A
XM_006724841.4:c.561C>A	XP_006724904.1:p.Asn187Lys
XM_006724842.4:c.471C>A	XP_006724905.1:p.Asn157Lys
XM_011531191.2:c.492C>A	XP_011529493.1:p.Asn164Lys
XM_017029761.1:c.753C>A	XP_016885250.1:p.Asn251Lys
XM_017029762.1:c.732C>A	XP_016885251.1:p.Asn244Lys
XM_017029763.1:c.555C>A	XP_016885252.1:p.Asn185Lys
XM_017029764.1:c.489C>A	XP_016885253.1:p.Asn163Lys
XM_017029765.2:c.429C>A	XP_016885254.1:p.Asn143Lys
XM_024452431.1:c.726C>A	XP_024308199.1:p.Asn242Lys
NM_000116.5:c.768C>A MANE Select	NP_000107.1:p.Asn256Lys
NM_001303465.2:c.780C>A	NP_001290394.1:p.Asn260Lys
NM_181311.4:c.678C>A	NP_851828.1:p.Asn226Lys
NM_181312.4:c.726C>A	NP_851829.1:p.Asn242Lys
NM_181313.4:c.636C>A	NP_851830.1:p.Asn212Lys
NR_024048.3:n.1089C>A