Canonical Allele Identifier: CA415185505

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420725-A-G
• MyVariant Identifiers: chrX:g.153649064A>G (hg19) ; chrX:g.154420725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420725A>G , CM000685.2:g.154420725A>G	GRCh38
NC_000023.10:g.153649064A>G , CM000685.1:g.153649064A>G	GRCh37
NC_000023.9:g.153302258A>G	NCBI36
NG_009634.1:g.14188A>G
NG_009634.2:g.14191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1577A>G
ENST00000698317.1:n.2193A>G
ENST00000698318.1:n.1976A>G
ENST00000698319.1:n.1339A>G
ENST00000698320.1:n.1227A>G
ENST00000470127.2:n.1240A>G
ENST00000475699.6:c.731A>G	ENSP00000419854.3:p.Asn244Ser
ENST00000483674.3:n.649A>G
ENST00000601016.6:c.767A>G MANE Select	ENSP00000469981.1:p.Asn256Ser
ENST00000612012.5:c.725A>G	ENSP00000482070.2:p.Asn242Ser
ENST00000612460.5:c.677A>G	ENSP00000481037.1:p.Asn226Ser
ENST00000614595.2:n.2114A>G
ENST00000615658.5:n.1356A>G
ENST00000616020.5:c.779A>G	ENSP00000483636.2:p.Asn260Ser
ENST00000617701.5:c.*780A>G	ENSP00000481645.1:n.*780A>G
ENST00000651139.1:c.-17A>G	ENSP00000498957.1:n.-17A>G
ENST00000652354.1:c.449A>G	ENSP00000498734.1:p.Asn150Ser
ENST00000652358.1:c.560A>G	ENSP00000498464.1:p.Asn187Ser
ENST00000652390.1:c.686A>G	ENSP00000498858.1:p.Asn229Ser
ENST00000652476.1:n.1433A>G
ENST00000652644.1:c.380A>G	ENSP00000498496.1:p.Asn127Ser
ENST00000652682.1:c.824A>G	ENSP00000498288.1:p.Asn275Ser
ENST00000652685.1:n.1120A>G
ENST00000369776.8:c.677A>G	ENSP00000358791.4:p.Asn226Ser
ENST00000426231.5:c.764A>G
ENST00000475699.5:c.725A>G	ENSP00000419854.2:p.Asn242Ser
ENST00000494912.5:n.1456A>G
ENST00000498029.1:n.225A>G
ENST00000601016.5:c.767A>G	ENSP00000469981.1:p.Asn256Ser
ENST00000612460.4:c.677A>G	ENSP00000481037.1:p.Asn226Ser
ENST00000613002.4:c.635A>G	ENSP00000478154.1:p.Asn212Ser
ENST00000615986.4:c.*495A>G	ENSP00000480133.1:n.*495A>G
NM_000116.4:c.767A>G	NP_000107.1:p.Asn256Ser
NM_001303465.1:c.779A>G	NP_001290394.1:p.Asn260Ser
NM_181311.3:c.677A>G	NP_851828.1:p.Asn226Ser
NM_181312.3:c.725A>G	NP_851829.1:p.Asn242Ser
NM_181313.3:c.635A>G	NP_851830.1:p.Asn212Ser
NR_024048.2:n.1109A>G
XM_006724836.1:c.821A>G	XP_006724899.1:p.Asn274Ser
XM_006724837.1:c.806A>G	XP_006724900.1:p.Asn269Ser
XM_006724839.1:c.689A>G	XP_006724902.1:p.Asn230Ser
XM_006724841.2:c.560A>G	XP_006724904.1:p.Asn187Ser
XM_006724842.2:c.470A>G	XP_006724905.1:p.Asn157Ser
XM_011531189.1:c.608A>G	XP_011529491.1:p.Asn203Ser
XM_011531190.1:c.560A>G	XP_011529492.1:p.Asn187Ser
XM_011531191.1:c.491A>G	XP_011529493.1:p.Asn164Ser
XM_011531192.1:c.488A>G	XP_011529494.1:p.Asn163Ser
XR_938511.1:n.1115A>G
XM_006724841.4:c.560A>G	XP_006724904.1:p.Asn187Ser
XM_006724842.4:c.470A>G	XP_006724905.1:p.Asn157Ser
XM_011531191.2:c.491A>G	XP_011529493.1:p.Asn164Ser
XM_017029761.1:c.752A>G	XP_016885250.1:p.Asn251Ser
XM_017029762.1:c.731A>G	XP_016885251.1:p.Asn244Ser
XM_017029763.1:c.554A>G	XP_016885252.1:p.Asn185Ser
XM_017029764.1:c.488A>G	XP_016885253.1:p.Asn163Ser
XM_017029765.2:c.428A>G	XP_016885254.1:p.Asn143Ser
XM_024452431.1:c.725A>G	XP_024308199.1:p.Asn242Ser
NM_000116.5:c.767A>G MANE Select	NP_000107.1:p.Asn256Ser
NM_001303465.2:c.779A>G	NP_001290394.1:p.Asn260Ser
NM_181311.4:c.677A>G	NP_851828.1:p.Asn226Ser
NM_181312.4:c.725A>G	NP_851829.1:p.Asn242Ser
NM_181313.4:c.635A>G	NP_851830.1:p.Asn212Ser
NR_024048.3:n.1088A>G