Canonical Allele Identifier: CA415185112

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1557194167
• gnomAD v2: X-153648562-G-C
• gnomAD v4: X-154420223-G-C
• MyVariant Identifiers: chrX:g.153648562G>C (hg19) ; chrX:g.154420223G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420223G>C , CM000685.2:g.154420223G>C	GRCh38
NC_000023.10:g.153648562G>C , CM000685.1:g.153648562G>C	GRCh37
NC_000023.9:g.153301756G>C	NCBI36
NG_009634.1:g.13686G>C
NG_009634.2:g.13689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1468G>C
ENST00000698317.1:n.2084G>C
ENST00000698318.1:n.1867G>C
ENST00000698319.1:n.1230G>C
ENST00000698320.1:n.1118G>C
ENST00000470127.2:n.1131G>C
ENST00000475699.6:c.622G>C	ENSP00000419854.3:p.Val208Leu
ENST00000483674.3:n.540G>C
ENST00000601016.6:c.658G>C MANE Select	ENSP00000469981.1:p.Val220Leu
ENST00000612012.5:c.616G>C	ENSP00000482070.2:p.Val206Leu
ENST00000612460.5:c.568G>C	ENSP00000481037.1:p.Val190Leu
ENST00000614595.2:n.2005G>C
ENST00000615658.5:n.1247G>C
ENST00000616020.5:c.670G>C	ENSP00000483636.2:p.Val224Leu
ENST00000617701.5:c.*671G>C	ENSP00000481645.1:n.*671G>C
ENST00000652354.1:c.340G>C	ENSP00000498734.1:p.Val114Leu
ENST00000652358.1:c.451G>C	ENSP00000498464.1:p.Val151Leu
ENST00000652390.1:c.577G>C	ENSP00000498858.1:p.Val193Leu
ENST00000652476.1:n.1324G>C
ENST00000652644.1:c.271G>C	ENSP00000498496.1:p.Val91Leu
ENST00000652682.1:c.715G>C	ENSP00000498288.1:p.Val239Leu
ENST00000652685.1:n.1011G>C
ENST00000369776.8:c.568G>C	ENSP00000358791.4:p.Val190Leu
ENST00000426231.5:c.655G>C
ENST00000475699.5:c.616G>C	ENSP00000419854.2:p.Val206Leu
ENST00000494912.5:n.1347G>C
ENST00000498029.1:n.116G>C
ENST00000601016.5:c.658G>C	ENSP00000469981.1:p.Val220Leu
ENST00000612460.4:c.568G>C	ENSP00000481037.1:p.Val190Leu
ENST00000613002.4:c.526G>C	ENSP00000478154.1:p.Val176Leu
ENST00000615986.4:c.*386G>C	ENSP00000480133.1:n.*386G>C
NM_000116.4:c.658G>C	NP_000107.1:p.Val220Leu
NM_001303465.1:c.670G>C	NP_001290394.1:p.Val224Leu
NM_181311.3:c.568G>C	NP_851828.1:p.Val190Leu
NM_181312.3:c.616G>C	NP_851829.1:p.Val206Leu
NM_181313.3:c.526G>C	NP_851830.1:p.Val176Leu
NR_024048.2:n.1000G>C
XM_006724836.1:c.712G>C	XP_006724899.1:p.Val238Leu
XM_006724837.1:c.697G>C	XP_006724900.1:p.Val233Leu
XM_006724839.1:c.580G>C	XP_006724902.1:p.Val194Leu
XM_006724841.2:c.451G>C	XP_006724904.1:p.Val151Leu
XM_006724842.2:c.361G>C	XP_006724905.1:p.Val121Leu
XM_011531189.1:c.499G>C	XP_011529491.1:p.Val167Leu
XM_011531190.1:c.451G>C	XP_011529492.1:p.Val151Leu
XM_011531191.1:c.382G>C	XP_011529493.1:p.Val128Leu
XM_011531192.1:c.379G>C	XP_011529494.1:p.Val127Leu
XR_938511.1:n.1006G>C
XM_006724841.4:c.451G>C	XP_006724904.1:p.Val151Leu
XM_006724842.4:c.361G>C	XP_006724905.1:p.Val121Leu
XM_011531191.2:c.382G>C	XP_011529493.1:p.Val128Leu
XM_017029761.1:c.643G>C	XP_016885250.1:p.Val215Leu
XM_017029762.1:c.622G>C	XP_016885251.1:p.Val208Leu
XM_017029763.1:c.445G>C	XP_016885252.1:p.Val149Leu
XM_017029764.1:c.379G>C	XP_016885253.1:p.Val127Leu
XM_017029765.2:c.319G>C	XP_016885254.1:p.Val107Leu
XM_024452431.1:c.616G>C	XP_024308199.1:p.Val206Leu
NM_000116.5:c.658G>C MANE Select	NP_000107.1:p.Val220Leu
NM_001303465.2:c.670G>C	NP_001290394.1:p.Val224Leu
NM_181311.4:c.568G>C	NP_851828.1:p.Val190Leu
NM_181312.4:c.616G>C	NP_851829.1:p.Val206Leu
NM_181313.4:c.526G>C	NP_851830.1:p.Val176Leu
NR_024048.3:n.979G>C