Canonical Allele Identifier: CA415180506

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641554A>T (hg19) ; chrX:g.154413217A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413217A>T , CM000685.2:g.154413217A>T	GRCh38
NC_000023.10:g.153641554A>T , CM000685.1:g.153641554A>T	GRCh37
NC_000023.9:g.153294748A>T	NCBI36
NG_009634.1:g.6678A>T
NG_012884.2:g.3872T>A
NG_009634.2:g.6683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.677A>T
ENST00000698235.1:n.236A>T
ENST00000698317.1:n.1203A>T
ENST00000698318.1:n.1064A>T
ENST00000470127.2:n.298A>T
ENST00000475699.6:c.303A>T	ENSP00000419854.3:p.Lys101Asn
ENST00000476800.2:n.1206A>T
ENST00000483674.3:n.140A>T
ENST00000601016.6:c.249A>T MANE Select	ENSP00000469981.1:p.Lys83Asn
ENST00000612012.5:c.249A>T	ENSP00000482070.2:p.Lys83Asn
ENST00000612460.5:c.249A>T	ENSP00000481037.1:p.Lys83Asn
ENST00000614595.2:n.1599A>T
ENST00000615658.5:n.562A>T
ENST00000616020.5:c.303A>T	ENSP00000483636.2:p.Lys101Asn
ENST00000617701.5:c.249A>T	ENSP00000481645.1:p.Lys83Asn
ENST00000621647.2:n.302A>T
ENST00000652354.1:c.-28A>T	ENSP00000498734.1:n.-28A>T
ENST00000652358.1:c.-46A>T	ENSP00000498464.1:n.-46A>T
ENST00000652390.1:c.168A>T	ENSP00000498858.1:p.Lys56Asn
ENST00000652476.1:n.410A>T
ENST00000652682.1:c.249A>T	ENSP00000498288.1:p.Lys83Asn
ENST00000652685.1:n.301A>T
ENST00000369776.8:c.174A>T	ENSP00000358791.4:p.Lys58Asn
ENST00000426231.5:c.65A>T
ENST00000439735.2:c.249A>T	ENSP00000398193.1:p.Lys83Asn
ENST00000475699.5:c.249A>T	ENSP00000419854.2:p.Lys83Asn
ENST00000476679.5:n.162A>T
ENST00000476800.1:n.127A>T
ENST00000479875.1:n.278A>T
ENST00000483780.5:n.23A>T
ENST00000601016.5:c.249A>T	ENSP00000469981.1:p.Lys83Asn
ENST00000612012.4:c.303A>T	ENSP00000482070.1:p.Lys101Asn
ENST00000612460.4:c.249A>T	ENSP00000481037.1:p.Lys83Asn
ENST00000613002.4:c.249A>T	ENSP00000478154.1:p.Lys83Asn
ENST00000613634.4:n.569A>T
ENST00000615658.4:n.575A>T
ENST00000615986.4:c.249A>T	ENSP00000480133.1:p.Lys83Asn
ENST00000616020.4:c.303A>T	ENSP00000483636.1:p.Lys101Asn
ENST00000617701.4:c.249A>T	ENSP00000481645.1:p.Lys83Asn
ENST00000620808.4:c.249A>T	ENSP00000479311.1:p.Lys83Asn
ENST00000621647.1:n.534A>T
NM_000116.4:c.249A>T	NP_000107.1:p.Lys83Asn
NM_001303465.1:c.303A>T	NP_001290394.1:p.Lys101Asn
NM_181311.3:c.249A>T	NP_851828.1:p.Lys83Asn
NM_181312.3:c.249A>T	NP_851829.1:p.Lys83Asn
NM_181313.3:c.249A>T	NP_851830.1:p.Lys83Asn
NR_024048.2:n.575A>T
XM_006724836.1:c.303A>T	XP_006724899.1:p.Lys101Asn
XM_006724837.1:c.303A>T	XP_006724900.1:p.Lys101Asn
XM_006724839.1:c.303A>T	XP_006724902.1:p.Lys101Asn
XM_006724841.2:c.-46A>T	XP_006724904.1:n.-46A>T
XM_006724842.2:c.-46A>T	XP_006724905.1:n.-46A>T
XM_011531189.1:c.303A>T	XP_011529491.1:p.Lys101Asn
XM_011531190.1:c.-46A>T	XP_011529492.1:n.-46A>T
XM_011531191.1:c.-28A>T	XP_011529493.1:n.-28A>T
XM_011531192.1:c.-149A>T	XP_011529494.1:n.-149A>T
XR_938511.1:n.606A>T
XM_006724841.4:c.-46A>T	XP_006724904.1:n.-46A>T
XM_006724842.4:c.-46A>T	XP_006724905.1:n.-46A>T
XM_011531191.2:c.-28A>T	XP_011529493.1:n.-28A>T
XM_017029761.1:c.249A>T	XP_016885250.1:p.Lys83Asn
XM_017029762.1:c.303A>T	XP_016885251.1:p.Lys101Asn
XM_017029763.1:c.249A>T	XP_016885252.1:p.Lys83Asn
XM_017029765.2:c.-46A>T	XP_016885254.1:n.-46A>T
XM_024452431.1:c.303A>T	XP_024308199.1:p.Lys101Asn
NM_000116.5:c.249A>T MANE Select	NP_000107.1:p.Lys83Asn
NM_001303465.2:c.303A>T	NP_001290394.1:p.Lys101Asn
NM_181311.4:c.249A>T	NP_851828.1:p.Lys83Asn
NM_181312.4:c.249A>T	NP_851829.1:p.Lys83Asn
NM_181313.4:c.249A>T	NP_851830.1:p.Lys83Asn
NR_024048.3:n.554A>T