Canonical Allele Identifier: CA415184108

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068584100
• gnomAD v3: X-154420040-C-T
• gnomAD v4: X-154420040-C-T
• MyVariant Identifiers: chrX:g.153648379C>T (hg19) ; chrX:g.154420040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420040C>T , CM000685.2:g.154420040C>T	GRCh38
NC_000023.10:g.153648379C>T , CM000685.1:g.153648379C>T	GRCh37
NC_000023.9:g.153301573C>T	NCBI36
NG_009634.1:g.13503C>T
NG_009634.2:g.13506C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1402C>T
ENST00000698317.1:n.2018C>T
ENST00000698318.1:n.1801C>T
ENST00000698319.1:n.1164C>T
ENST00000698320.1:n.1052C>T
ENST00000470127.2:n.1065C>T
ENST00000475699.6:c.556C>T	ENSP00000419854.3:p.Arg186Cys
ENST00000483674.3:n.474C>T
ENST00000601016.6:c.592C>T MANE Select	ENSP00000469981.1:p.Arg198Cys
ENST00000612012.5:c.550C>T	ENSP00000482070.2:p.Arg184Cys
ENST00000612460.5:c.502C>T	ENSP00000481037.1:p.Arg168Cys
ENST00000614595.2:n.1939C>T
ENST00000615658.5:n.1181C>T
ENST00000616020.5:c.604C>T	ENSP00000483636.2:p.Arg202Cys
ENST00000617701.5:c.*605C>T	ENSP00000481645.1:n.*605C>T
ENST00000652354.1:c.274C>T	ENSP00000498734.1:p.Arg92Cys
ENST00000652358.1:c.385C>T	ENSP00000498464.1:p.Arg129Cys
ENST00000652390.1:c.511C>T	ENSP00000498858.1:p.Arg171Cys
ENST00000652476.1:n.1258C>T
ENST00000652644.1:c.205C>T	ENSP00000498496.1:p.Arg69Cys
ENST00000652682.1:c.649C>T	ENSP00000498288.1:p.Arg217Cys
ENST00000652685.1:n.945C>T
ENST00000369776.8:c.385C>T	ENSP00000358791.4:p.Arg129Cys
ENST00000426231.5:c.589C>T
ENST00000439735.2:c.499C>T	ENSP00000398193.1:p.Arg167Cys
ENST00000470127.1:n.171C>T
ENST00000475699.5:c.550C>T	ENSP00000419854.2:p.Arg184Cys
ENST00000494912.5:n.1281C>T
ENST00000498029.1:n.50C>T
ENST00000601016.5:c.592C>T	ENSP00000469981.1:p.Arg198Cys
ENST00000612012.4:c.556C>T	ENSP00000482070.1:p.Arg186Cys
ENST00000612460.4:c.502C>T	ENSP00000481037.1:p.Arg168Cys
ENST00000613002.4:c.460C>T	ENSP00000478154.1:p.Arg154Cys
ENST00000613634.4:n.1107C>T
ENST00000615658.4:n.1281C>T
ENST00000615986.4:c.*320C>T	ENSP00000480133.1:n.*320C>T
ENST00000620808.4:c.*178C>T	ENSP00000479311.1:n.*178C>T
NM_000116.4:c.592C>T	NP_000107.1:p.Arg198Cys
NM_001303465.1:c.604C>T	NP_001290394.1:p.Arg202Cys
NM_181311.3:c.502C>T	NP_851828.1:p.Arg168Cys
NM_181312.3:c.550C>T	NP_851829.1:p.Arg184Cys
NM_181313.3:c.460C>T	NP_851830.1:p.Arg154Cys
NR_024048.2:n.934C>T
XM_006724836.1:c.646C>T	XP_006724899.1:p.Arg216Cys
XM_006724837.1:c.514C>T	XP_006724900.1:p.Arg172Cys
XM_006724839.1:c.514C>T	XP_006724902.1:p.Arg172Cys
XM_006724841.2:c.385C>T	XP_006724904.1:p.Arg129Cys
XM_006724842.2:c.295C>T	XP_006724905.1:p.Arg99Cys
XM_011531189.1:c.433C>T	XP_011529491.1:p.Arg145Cys
XM_011531190.1:c.385C>T	XP_011529492.1:p.Arg129Cys
XM_011531191.1:c.316C>T	XP_011529493.1:p.Arg106Cys
XM_011531192.1:c.313C>T	XP_011529494.1:p.Arg105Cys
XR_938511.1:n.940C>T
XM_006724841.4:c.385C>T	XP_006724904.1:p.Arg129Cys
XM_006724842.4:c.295C>T	XP_006724905.1:p.Arg99Cys
XM_011531191.2:c.316C>T	XP_011529493.1:p.Arg106Cys
XM_017029761.1:c.460C>T	XP_016885250.1:p.Arg154Cys
XM_017029762.1:c.556C>T	XP_016885251.1:p.Arg186Cys
XM_017029763.1:c.379C>T	XP_016885252.1:p.Arg127Cys
XM_017029764.1:c.313C>T	XP_016885253.1:p.Arg105Cys
XM_017029765.2:c.253C>T	XP_016885254.1:p.Arg85Cys
XM_024452431.1:c.433C>T	XP_024308199.1:p.Arg145Cys
NM_000116.5:c.592C>T MANE Select	NP_000107.1:p.Arg198Cys
NM_001303465.2:c.604C>T	NP_001290394.1:p.Arg202Cys
NM_181311.4:c.502C>T	NP_851828.1:p.Arg168Cys
NM_181312.4:c.550C>T	NP_851829.1:p.Arg184Cys
NM_181313.4:c.460C>T	NP_851830.1:p.Arg154Cys
NR_024048.3:n.913C>T