Canonical Allele Identifier: CA10562328

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs781894772
• ExAC: X:153641869 T / C
• MyVariant Identifiers: chrX:g.153641869T>C (hg19) ; chrX:g.154413532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413532T>C , CM000685.2:g.154413532T>C	GRCh38
NC_000023.10:g.153641869T>C , CM000685.1:g.153641869T>C	GRCh37
NC_000023.9:g.153295063T>C	NCBI36
NG_009634.1:g.6993T>C
NG_012884.2:g.3557A>G
NG_009634.2:g.6998T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.869T>C
ENST00000698235.1:n.409T>C
ENST00000698317.1:n.1395T>C
ENST00000698318.1:n.1268T>C
ENST00000470127.2:n.613T>C
ENST00000475699.6:c.389T>C	ENSP00000419854.3:p.Phe130Ser
ENST00000476800.2:n.1521T>C
ENST00000483674.3:n.226T>C
ENST00000601016.6:c.335T>C MANE Select	ENSP00000469981.1:p.Phe112Ser
ENST00000612012.5:c.335T>C	ENSP00000482070.2:p.Phe112Ser
ENST00000612460.5:c.335T>C	ENSP00000481037.1:p.Phe112Ser
ENST00000614595.2:n.1772T>C
ENST00000615658.5:n.648T>C
ENST00000616020.5:c.389T>C	ENSP00000483636.2:p.Phe130Ser
ENST00000617701.5:c.*153T>C	ENSP00000481645.1:n.*153T>C
ENST00000621647.2:n.617T>C
ENST00000652354.1:c.59T>C	ENSP00000498734.1:p.Phe20Ser
ENST00000652358.1:c.128T>C	ENSP00000498464.1:p.Phe43Ser
ENST00000652390.1:c.254T>C	ENSP00000498858.1:p.Phe85Ser
ENST00000652476.1:n.725T>C
ENST00000652682.1:c.335T>C	ENSP00000498288.1:p.Phe112Ser
ENST00000652685.1:n.493T>C
ENST00000369776.8:c.260T>C	ENSP00000358791.4:p.Phe87Ser
ENST00000426231.5:c.251T>C
ENST00000439735.2:c.335T>C	ENSP00000398193.1:p.Phe112Ser
ENST00000470127.1:n.4T>C
ENST00000475699.5:c.335T>C	ENSP00000419854.2:p.Phe112Ser
ENST00000476679.5:n.248T>C
ENST00000476800.1:n.442T>C
ENST00000479875.1:n.364T>C
ENST00000483674.2:n.44T>C
ENST00000483780.5:n.109T>C
ENST00000601016.5:c.335T>C	ENSP00000469981.1:p.Phe112Ser
ENST00000612012.4:c.389T>C	ENSP00000482070.1:p.Phe130Ser
ENST00000612460.4:c.335T>C	ENSP00000481037.1:p.Phe112Ser
ENST00000613002.4:c.335T>C	ENSP00000478154.1:p.Phe112Ser
ENST00000613634.4:n.655T>C
ENST00000615658.4:n.748T>C
ENST00000615986.4:c.*153T>C	ENSP00000480133.1:n.*153T>C
ENST00000616020.4:c.389T>C	ENSP00000483636.1:p.Phe130Ser
ENST00000617701.4:c.*165T>C	ENSP00000481645.1:n.*165T>C
ENST00000620808.4:c.*134T>C	ENSP00000479311.1:n.*134T>C
ENST00000621647.1:n.849T>C
NM_000116.4:c.335T>C	NP_000107.1:p.Phe112Ser
NM_001303465.1:c.389T>C	NP_001290394.1:p.Phe130Ser
NM_181311.3:c.335T>C	NP_851828.1:p.Phe112Ser
NM_181312.3:c.335T>C	NP_851829.1:p.Phe112Ser
NM_181313.3:c.335T>C	NP_851830.1:p.Phe112Ser
NR_024048.2:n.767T>C
XM_006724836.1:c.389T>C	XP_006724899.1:p.Phe130Ser
XM_006724837.1:c.389T>C	XP_006724900.1:p.Phe130Ser
XM_006724839.1:c.389T>C	XP_006724902.1:p.Phe130Ser
XM_006724841.2:c.128T>C	XP_006724904.1:p.Phe43Ser
XM_006724842.2:c.128T>C	XP_006724905.1:p.Phe43Ser
XM_011531189.1:c.389T>C	XP_011529491.1:p.Phe130Ser
XM_011531190.1:c.128T>C	XP_011529492.1:p.Phe43Ser
XM_011531191.1:c.59T>C	XP_011529493.1:p.Phe20Ser
XM_011531192.1:c.56T>C	XP_011529494.1:p.Phe19Ser
XR_938511.1:n.692T>C
XM_006724841.4:c.128T>C	XP_006724904.1:p.Phe43Ser
XM_006724842.4:c.128T>C	XP_006724905.1:p.Phe43Ser
XM_011531191.2:c.59T>C	XP_011529493.1:p.Phe20Ser
XM_017029761.1:c.335T>C	XP_016885250.1:p.Phe112Ser
XM_017029762.1:c.389T>C	XP_016885251.1:p.Phe130Ser
XM_017029763.1:c.335T>C	XP_016885252.1:p.Phe112Ser
XM_017029764.1:c.56T>C	XP_016885253.1:p.Phe19Ser
XM_017029765.2:c.128T>C	XP_016885254.1:p.Phe43Ser
XM_024452431.1:c.389T>C	XP_024308199.1:p.Phe130Ser
NM_000116.5:c.335T>C MANE Select	NP_000107.1:p.Phe112Ser
NM_001303465.2:c.389T>C	NP_001290394.1:p.Phe130Ser
NM_181311.4:c.335T>C	NP_851828.1:p.Phe112Ser
NM_181312.4:c.335T>C	NP_851829.1:p.Phe112Ser
NM_181313.4:c.335T>C	NP_851830.1:p.Phe112Ser
NR_024048.3:n.746T>C