Canonical Allele Identifier: CA415183989

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648081G>T (hg19) ; chrX:g.154419742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154419742G>T , CM000685.2:g.154419742G>T	GRCh38
NC_000023.10:g.153648081G>T , CM000685.1:g.153648081G>T	GRCh37
NC_000023.9:g.153301275G>T	NCBI36
NG_009634.1:g.13205G>T
NG_009634.2:g.13208G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1104G>T
ENST00000698317.1:n.1720G>T
ENST00000698318.1:n.1503G>T
ENST00000698319.1:n.866G>T
ENST00000698320.1:n.754G>T
ENST00000470127.2:n.767G>T
ENST00000475699.6:c.543G>T	ENSP00000419854.3:p.Lys181Asn
ENST00000483674.3:n.461G>T
ENST00000601016.6:c.579G>T MANE Select	ENSP00000469981.1:p.Lys193Asn
ENST00000612012.5:c.541+119G>T	ENSP00000482070.2:n.541+119G>T
ENST00000612460.5:c.489G>T	ENSP00000481037.1:p.Lys163Asn
ENST00000614595.2:n.1926G>T
ENST00000615658.5:n.883G>T
ENST00000616020.5:c.595+119G>T	ENSP00000483636.2:n.595+119G>T
ENST00000617701.5:c.*307G>T	ENSP00000481645.1:n.*307G>T
ENST00000652354.1:c.265+119G>T	ENSP00000498734.1:n.265+119G>T
ENST00000652358.1:c.372G>T	ENSP00000498464.1:p.Lys124Asn
ENST00000652390.1:c.498G>T	ENSP00000498858.1:p.Lys166Asn
ENST00000652476.1:n.960G>T
ENST00000652644.1:c.192G>T	ENSP00000498496.1:p.Lys64Asn
ENST00000652682.1:c.636G>T	ENSP00000498288.1:p.Lys212Asn
ENST00000652685.1:n.647G>T
ENST00000369776.8:c.376+119G>T	ENSP00000358791.4:n.376+119G>T
ENST00000426231.5:c.576G>T
ENST00000439735.2:c.486G>T	ENSP00000398193.1:p.Lys162Asn
ENST00000470127.1:n.158G>T
ENST00000475699.5:c.541+119G>T	ENSP00000419854.2:n.541+119G>T
ENST00000476679.5:n.573G>T
ENST00000483780.5:n.344G>T
ENST00000494912.5:n.1268G>T
ENST00000601016.5:c.579G>T	ENSP00000469981.1:p.Lys193Asn
ENST00000612012.4:c.543G>T	ENSP00000482070.1:p.Lys181Asn
ENST00000612460.4:c.489G>T	ENSP00000481037.1:p.Lys163Asn
ENST00000613002.4:c.451+119G>T	ENSP00000478154.1:n.451+119G>T
ENST00000613634.4:n.809G>T
ENST00000615658.4:n.983G>T
ENST00000615986.4:c.*307G>T	ENSP00000480133.1:n.*307G>T
ENST00000620808.4:c.*170-290G>T	ENSP00000479311.1:n.*170-290G>T
NM_000116.4:c.579G>T	NP_000107.1:p.Lys193Asn
NM_001303465.1:c.595+119G>T	NP_001290394.1:n.595+119G>T
NM_181311.3:c.489G>T	NP_851828.1:p.Lys163Asn
NM_181312.3:c.541+119G>T	NP_851829.1:n.541+119G>T
NM_181313.3:c.451+119G>T	NP_851830.1:n.451+119G>T
NR_024048.2:n.921G>T
XM_006724836.1:c.633G>T	XP_006724899.1:p.Lys211Asn
XM_006724837.1:c.505+119G>T	XP_006724900.1:n.505+119G>T
XM_006724839.1:c.505+119G>T	XP_006724902.1:n.505+119G>T
XM_006724841.2:c.372G>T	XP_006724904.1:p.Lys124Asn
XM_006724842.2:c.282G>T	XP_006724905.1:p.Lys94Asn
XM_011531189.1:c.425-290G>T	XP_011529491.1:n.425-290G>T
XM_011531190.1:c.372G>T	XP_011529492.1:p.Lys124Asn
XM_011531191.1:c.303G>T	XP_011529493.1:p.Lys101Asn
XM_011531192.1:c.300G>T	XP_011529494.1:p.Lys100Asn
XR_938511.1:n.927G>T
XM_006724841.4:c.372G>T	XP_006724904.1:p.Lys124Asn
XM_006724842.4:c.282G>T	XP_006724905.1:p.Lys94Asn
XM_011531191.2:c.303G>T	XP_011529493.1:p.Lys101Asn
XM_017029761.1:c.451+119G>T	XP_016885250.1:n.451+119G>T
XM_017029762.1:c.543G>T	XP_016885251.1:p.Lys181Asn
XM_017029763.1:c.371-290G>T	XP_016885252.1:n.371-290G>T
XM_017029764.1:c.300G>T	XP_016885253.1:p.Lys100Asn
XM_017029765.2:c.244+119G>T	XP_016885254.1:n.244+119G>T
XM_024452431.1:c.425-290G>T	XP_024308199.1:n.425-290G>T
NM_000116.5:c.579G>T MANE Select	NP_000107.1:p.Lys193Asn
NM_001303465.2:c.595+119G>T	NP_001290394.1:n.595+119G>T
NM_181311.4:c.489G>T	NP_851828.1:p.Lys163Asn
NM_181312.4:c.541+119G>T	NP_851829.1:n.541+119G>T
NM_181313.4:c.451+119G>T	NP_851830.1:n.451+119G>T
NR_024048.3:n.900G>T