Canonical Allele Identifier: CA415185321

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648999A>C (hg19) ; chrX:g.154420660A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420660A>C , CM000685.2:g.154420660A>C	GRCh38
NC_000023.10:g.153648999A>C , CM000685.1:g.153648999A>C	GRCh37
NC_000023.9:g.153302193A>C	NCBI36
NG_009634.1:g.14123A>C
NG_009634.2:g.14126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1512A>C
ENST00000698317.1:n.2128A>C
ENST00000698318.1:n.1911A>C
ENST00000698319.1:n.1274A>C
ENST00000698320.1:n.1162A>C
ENST00000470127.2:n.1175A>C
ENST00000475699.6:c.666A>C	ENSP00000419854.3:p.Lys222Asn
ENST00000483674.3:n.584A>C
ENST00000601016.6:c.702A>C MANE Select	ENSP00000469981.1:p.Lys234Asn
ENST00000612012.5:c.660A>C	ENSP00000482070.2:p.Lys220Asn
ENST00000612460.5:c.612A>C	ENSP00000481037.1:p.Lys204Asn
ENST00000614595.2:n.2049A>C
ENST00000615658.5:n.1291A>C
ENST00000616020.5:c.714A>C	ENSP00000483636.2:p.Lys238Asn
ENST00000617701.5:c.*715A>C	ENSP00000481645.1:n.*715A>C
ENST00000651139.1:c.-82A>C	ENSP00000498957.1:n.-82A>C
ENST00000652354.1:c.384A>C	ENSP00000498734.1:p.Lys128Asn
ENST00000652358.1:c.495A>C	ENSP00000498464.1:p.Lys165Asn
ENST00000652390.1:c.621A>C	ENSP00000498858.1:p.Lys207Asn
ENST00000652476.1:n.1368A>C
ENST00000652644.1:c.315A>C	ENSP00000498496.1:p.Lys105Asn
ENST00000652682.1:c.759A>C	ENSP00000498288.1:p.Lys253Asn
ENST00000652685.1:n.1055A>C
ENST00000369776.8:c.612A>C	ENSP00000358791.4:p.Lys204Asn
ENST00000426231.5:c.699A>C
ENST00000475699.5:c.660A>C	ENSP00000419854.2:p.Lys220Asn
ENST00000494912.5:n.1391A>C
ENST00000498029.1:n.160A>C
ENST00000601016.5:c.702A>C	ENSP00000469981.1:p.Lys234Asn
ENST00000612460.4:c.612A>C	ENSP00000481037.1:p.Lys204Asn
ENST00000613002.4:c.570A>C	ENSP00000478154.1:p.Lys190Asn
ENST00000615986.4:c.*430A>C	ENSP00000480133.1:n.*430A>C
NM_000116.4:c.702A>C	NP_000107.1:p.Lys234Asn
NM_001303465.1:c.714A>C	NP_001290394.1:p.Lys238Asn
NM_181311.3:c.612A>C	NP_851828.1:p.Lys204Asn
NM_181312.3:c.660A>C	NP_851829.1:p.Lys220Asn
NM_181313.3:c.570A>C	NP_851830.1:p.Lys190Asn
NR_024048.2:n.1044A>C
XM_006724836.1:c.756A>C	XP_006724899.1:p.Lys252Asn
XM_006724837.1:c.741A>C	XP_006724900.1:p.Lys247Asn
XM_006724839.1:c.624A>C	XP_006724902.1:p.Lys208Asn
XM_006724841.2:c.495A>C	XP_006724904.1:p.Lys165Asn
XM_006724842.2:c.405A>C	XP_006724905.1:p.Lys135Asn
XM_011531189.1:c.543A>C	XP_011529491.1:p.Lys181Asn
XM_011531190.1:c.495A>C	XP_011529492.1:p.Lys165Asn
XM_011531191.1:c.426A>C	XP_011529493.1:p.Lys142Asn
XM_011531192.1:c.423A>C	XP_011529494.1:p.Lys141Asn
XR_938511.1:n.1050A>C
XM_006724841.4:c.495A>C	XP_006724904.1:p.Lys165Asn
XM_006724842.4:c.405A>C	XP_006724905.1:p.Lys135Asn
XM_011531191.2:c.426A>C	XP_011529493.1:p.Lys142Asn
XM_017029761.1:c.687A>C	XP_016885250.1:p.Lys229Asn
XM_017029762.1:c.666A>C	XP_016885251.1:p.Lys222Asn
XM_017029763.1:c.489A>C	XP_016885252.1:p.Lys163Asn
XM_017029764.1:c.423A>C	XP_016885253.1:p.Lys141Asn
XM_017029765.2:c.363A>C	XP_016885254.1:p.Lys121Asn
XM_024452431.1:c.660A>C	XP_024308199.1:p.Lys220Asn
NM_000116.5:c.702A>C MANE Select	NP_000107.1:p.Lys234Asn
NM_001303465.2:c.714A>C	NP_001290394.1:p.Lys238Asn
NM_181311.4:c.612A>C	NP_851828.1:p.Lys204Asn
NM_181312.4:c.660A>C	NP_851829.1:p.Lys220Asn
NM_181313.4:c.570A>C	NP_851830.1:p.Lys190Asn
NR_024048.3:n.1023A>C