Canonical Allele Identifier: CA415185269

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 662186
• ClinVar RCV Id: RCV000819778
• dbSNP Id: rs1603381860
• MyVariant Identifiers: chrX:g.153648601C>T (hg19) ; chrX:g.154420262C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420262C>T , CM000685.2:g.154420262C>T	GRCh38
NC_000023.10:g.153648601C>T , CM000685.1:g.153648601C>T	GRCh37
NC_000023.9:g.153301795C>T	NCBI36
NG_009634.1:g.13725C>T
NG_009634.2:g.13728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1507C>T
ENST00000698317.1:n.2123C>T
ENST00000698318.1:n.1906C>T
ENST00000698319.1:n.1269C>T
ENST00000698320.1:n.1157C>T
ENST00000470127.2:n.1170C>T
ENST00000475699.6:c.661C>T	ENSP00000419854.3:p.Gln221Ter
ENST00000483674.3:n.579C>T
ENST00000601016.6:c.697C>T MANE Select	ENSP00000469981.1:p.Gln233Ter
ENST00000612012.5:c.655C>T	ENSP00000482070.2:p.Gln219Ter
ENST00000612460.5:c.607C>T	ENSP00000481037.1:p.Gln203Ter
ENST00000614595.2:n.2044C>T
ENST00000615658.5:n.1286C>T
ENST00000616020.5:c.709C>T	ENSP00000483636.2:p.Gln237Ter
ENST00000617701.5:c.*710C>T	ENSP00000481645.1:n.*710C>T
ENST00000652354.1:c.379C>T	ENSP00000498734.1:p.Gln127Ter
ENST00000652358.1:c.490C>T	ENSP00000498464.1:p.Gln164Ter
ENST00000652390.1:c.616C>T	ENSP00000498858.1:p.Gln206Ter
ENST00000652476.1:n.1363C>T
ENST00000652644.1:c.310C>T	ENSP00000498496.1:p.Gln104Ter
ENST00000652682.1:c.754C>T	ENSP00000498288.1:p.Gln252Ter
ENST00000652685.1:n.1050C>T
ENST00000369776.8:c.607C>T	ENSP00000358791.4:p.Gln203Ter
ENST00000426231.5:c.694C>T
ENST00000475699.5:c.655C>T	ENSP00000419854.2:p.Gln219Ter
ENST00000494912.5:n.1386C>T
ENST00000498029.1:n.155C>T
ENST00000601016.5:c.697C>T	ENSP00000469981.1:p.Gln233Ter
ENST00000612460.4:c.607C>T	ENSP00000481037.1:p.Gln203Ter
ENST00000613002.4:c.565C>T	ENSP00000478154.1:p.Gln189Ter
ENST00000615986.4:c.*425C>T	ENSP00000480133.1:n.*425C>T
NM_000116.4:c.697C>T	NP_000107.1:p.Gln233Ter
NM_001303465.1:c.709C>T	NP_001290394.1:p.Gln237Ter
NM_181311.3:c.607C>T	NP_851828.1:p.Gln203Ter
NM_181312.3:c.655C>T	NP_851829.1:p.Gln219Ter
NM_181313.3:c.565C>T	NP_851830.1:p.Gln189Ter
NR_024048.2:n.1039C>T
XM_006724836.1:c.751C>T	XP_006724899.1:p.Gln251Ter
XM_006724837.1:c.736C>T	XP_006724900.1:p.Gln246Ter
XM_006724839.1:c.619C>T	XP_006724902.1:p.Gln207Ter
XM_006724841.2:c.490C>T	XP_006724904.1:p.Gln164Ter
XM_006724842.2:c.400C>T	XP_006724905.1:p.Gln134Ter
XM_011531189.1:c.538C>T	XP_011529491.1:p.Gln180Ter
XM_011531190.1:c.490C>T	XP_011529492.1:p.Gln164Ter
XM_011531191.1:c.421C>T	XP_011529493.1:p.Gln141Ter
XM_011531192.1:c.418C>T	XP_011529494.1:p.Gln140Ter
XR_938511.1:n.1045C>T
XM_006724841.4:c.490C>T	XP_006724904.1:p.Gln164Ter
XM_006724842.4:c.400C>T	XP_006724905.1:p.Gln134Ter
XM_011531191.2:c.421C>T	XP_011529493.1:p.Gln141Ter
XM_017029761.1:c.682C>T	XP_016885250.1:p.Gln228Ter
XM_017029762.1:c.661C>T	XP_016885251.1:p.Gln221Ter
XM_017029763.1:c.484C>T	XP_016885252.1:p.Gln162Ter
XM_017029764.1:c.418C>T	XP_016885253.1:p.Gln140Ter
XM_017029765.2:c.358C>T	XP_016885254.1:p.Gln120Ter
XM_024452431.1:c.655C>T	XP_024308199.1:p.Gln219Ter
NM_000116.5:c.697C>T MANE Select	NP_000107.1:p.Gln233Ter
NM_001303465.2:c.709C>T	NP_001290394.1:p.Gln237Ter
NM_181311.4:c.607C>T	NP_851828.1:p.Gln203Ter
NM_181312.4:c.655C>T	NP_851829.1:p.Gln219Ter
NM_181313.4:c.565C>T	NP_851830.1:p.Gln189Ter
NR_024048.3:n.1018C>T