Canonical Allele Identifier: CA415184252

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648403A>C (hg19) ; chrX:g.154420064A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420064A>C , CM000685.2:g.154420064A>C	GRCh38
NC_000023.10:g.153648403A>C , CM000685.1:g.153648403A>C	GRCh37
NC_000023.9:g.153301597A>C	NCBI36
NG_009634.1:g.13527A>C
NG_009634.2:g.13530A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1426A>C
ENST00000698317.1:n.2042A>C
ENST00000698318.1:n.1825A>C
ENST00000698319.1:n.1188A>C
ENST00000698320.1:n.1076A>C
ENST00000470127.2:n.1089A>C
ENST00000475699.6:c.580A>C	ENSP00000419854.3:p.Asn194His
ENST00000483674.3:n.498A>C
ENST00000601016.6:c.616A>C MANE Select	ENSP00000469981.1:p.Asn206His
ENST00000612012.5:c.574A>C	ENSP00000482070.2:p.Asn192His
ENST00000612460.5:c.526A>C	ENSP00000481037.1:p.Asn176His
ENST00000614595.2:n.1963A>C
ENST00000615658.5:n.1205A>C
ENST00000616020.5:c.628A>C	ENSP00000483636.2:p.Asn210His
ENST00000617701.5:c.*629A>C	ENSP00000481645.1:n.*629A>C
ENST00000652354.1:c.298A>C	ENSP00000498734.1:p.Asn100His
ENST00000652358.1:c.409A>C	ENSP00000498464.1:p.Asn137His
ENST00000652390.1:c.535A>C	ENSP00000498858.1:p.Asn179His
ENST00000652476.1:n.1282A>C
ENST00000652644.1:c.229A>C	ENSP00000498496.1:p.Asn77His
ENST00000652682.1:c.673A>C	ENSP00000498288.1:p.Asn225His
ENST00000652685.1:n.969A>C
ENST00000369776.8:c.409A>C	ENSP00000358791.4:p.Asn137His
ENST00000426231.5:c.613A>C
ENST00000439735.2:c.523A>C	ENSP00000398193.1:p.Asn175His
ENST00000470127.1:n.195A>C
ENST00000475699.5:c.574A>C	ENSP00000419854.2:p.Asn192His
ENST00000494912.5:n.1305A>C
ENST00000498029.1:n.74A>C
ENST00000601016.5:c.616A>C	ENSP00000469981.1:p.Asn206His
ENST00000612012.4:c.580A>C	ENSP00000482070.1:p.Asn194His
ENST00000612460.4:c.526A>C	ENSP00000481037.1:p.Asn176His
ENST00000613002.4:c.484A>C	ENSP00000478154.1:p.Asn162His
ENST00000615658.4:n.1305A>C
ENST00000615986.4:c.*344A>C	ENSP00000480133.1:n.*344A>C
ENST00000620808.4:c.*202A>C	ENSP00000479311.1:n.*202A>C
NM_000116.4:c.616A>C	NP_000107.1:p.Asn206His
NM_001303465.1:c.628A>C	NP_001290394.1:p.Asn210His
NM_181311.3:c.526A>C	NP_851828.1:p.Asn176His
NM_181312.3:c.574A>C	NP_851829.1:p.Asn192His
NM_181313.3:c.484A>C	NP_851830.1:p.Asn162His
NR_024048.2:n.958A>C
XM_006724836.1:c.670A>C	XP_006724899.1:p.Asn224His
XM_006724837.1:c.538A>C	XP_006724900.1:p.Asn180His
XM_006724839.1:c.538A>C	XP_006724902.1:p.Asn180His
XM_006724841.2:c.409A>C	XP_006724904.1:p.Asn137His
XM_006724842.2:c.319A>C	XP_006724905.1:p.Asn107His
XM_011531189.1:c.457A>C	XP_011529491.1:p.Asn153His
XM_011531190.1:c.409A>C	XP_011529492.1:p.Asn137His
XM_011531191.1:c.340A>C	XP_011529493.1:p.Asn114His
XM_011531192.1:c.337A>C	XP_011529494.1:p.Asn113His
XR_938511.1:n.964A>C
XM_006724841.4:c.409A>C	XP_006724904.1:p.Asn137His
XM_006724842.4:c.319A>C	XP_006724905.1:p.Asn107His
XM_011531191.2:c.340A>C	XP_011529493.1:p.Asn114His
XM_017029761.1:c.484A>C	XP_016885250.1:p.Asn162His
XM_017029762.1:c.580A>C	XP_016885251.1:p.Asn194His
XM_017029763.1:c.403A>C	XP_016885252.1:p.Asn135His
XM_017029764.1:c.337A>C	XP_016885253.1:p.Asn113His
XM_017029765.2:c.277A>C	XP_016885254.1:p.Asn93His
XM_024452431.1:c.457A>C	XP_024308199.1:p.Asn153His
NM_000116.5:c.616A>C MANE Select	NP_000107.1:p.Asn206His
NM_001303465.2:c.628A>C	NP_001290394.1:p.Asn210His
NM_181311.4:c.526A>C	NP_851828.1:p.Asn176His
NM_181312.4:c.574A>C	NP_851829.1:p.Asn192His
NM_181313.4:c.484A>C	NP_851830.1:p.Asn162His
NR_024048.3:n.937A>C