Canonical Allele Identifier: CA337285954

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs5986976
• gnomAD v4: X-154413378-C-A
• MyVariant Identifiers: chrX:g.153641715C>A (hg19) ; chrX:g.154413378C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413378C>A , CM000685.2:g.154413378C>A	GRCh38
NC_000023.10:g.153641715C>A , CM000685.1:g.153641715C>A	GRCh37
NC_000023.9:g.153294909C>A	NCBI36
NG_009634.1:g.6839C>A
NG_012884.2:g.3711G>T
NG_009634.2:g.6844C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.818+20C>A
ENST00000698235.1:n.358+39C>A
ENST00000698317.1:n.1344+20C>A
ENST00000698318.1:n.1217+8C>A
ENST00000470127.2:n.459C>A
ENST00000475699.6:c.339-104C>A	ENSP00000419854.3:n.339-104C>A
ENST00000476800.2:n.1367C>A
ENST00000483674.3:n.176-104C>A
ENST00000601016.6:c.285-104C>A MANE Select	ENSP00000469981.1:n.285-104C>A
ENST00000612012.5:c.285-104C>A	ENSP00000482070.2:n.285-104C>A
ENST00000612460.5:c.285-104C>A	ENSP00000481037.1:n.285-104C>A
ENST00000614595.2:n.1721+39C>A
ENST00000615658.5:n.598-104C>A
ENST00000616020.5:c.339-104C>A	ENSP00000483636.2:n.339-104C>A
ENST00000617701.5:c.*102+20C>A	ENSP00000481645.1:n.*102+20C>A
ENST00000621647.2:n.463C>A
ENST00000652354.1:c.9-104C>A	ENSP00000498734.1:n.9-104C>A
ENST00000652358.1:c.77+39C>A	ENSP00000498464.1:n.77+39C>A
ENST00000652390.1:c.204-104C>A	ENSP00000498858.1:n.204-104C>A
ENST00000652476.1:n.571C>A
ENST00000652682.1:c.285-104C>A	ENSP00000498288.1:n.285-104C>A
ENST00000652685.1:n.442+20C>A
ENST00000369776.8:c.210-104C>A	ENSP00000358791.4:n.210-104C>A
ENST00000426231.5:c.200+26C>A
ENST00000439735.2:c.285-104C>A	ENSP00000398193.1:n.285-104C>A
ENST00000475699.5:c.285-104C>A	ENSP00000419854.2:n.285-104C>A
ENST00000476679.5:n.198-104C>A
ENST00000476800.1:n.288C>A
ENST00000479875.1:n.314-104C>A
ENST00000483780.5:n.59-104C>A
ENST00000601016.5:c.285-104C>A	ENSP00000469981.1:n.285-104C>A
ENST00000612012.4:c.339-104C>A	ENSP00000482070.1:n.339-104C>A
ENST00000612460.4:c.285-104C>A	ENSP00000481037.1:n.285-104C>A
ENST00000613002.4:c.285-104C>A	ENSP00000478154.1:n.285-104C>A
ENST00000613634.4:n.605-104C>A
ENST00000615658.4:n.697+39C>A
ENST00000615986.4:c.*102+20C>A	ENSP00000480133.1:n.*102+20C>A
ENST00000616020.4:c.339-104C>A	ENSP00000483636.1:n.339-104C>A
ENST00000617701.4:c.*114+8C>A	ENSP00000481645.1:n.*114+8C>A
ENST00000620808.4:c.*83+39C>A	ENSP00000479311.1:n.*83+39C>A
ENST00000621647.1:n.695C>A
NM_000116.4:c.285-104C>A	NP_000107.1:n.285-104C>A
NM_001303465.1:c.339-104C>A	NP_001290394.1:n.339-104C>A
NM_181311.3:c.285-104C>A	NP_851828.1:n.285-104C>A
NM_181312.3:c.285-104C>A	NP_851829.1:n.285-104C>A
NM_181313.3:c.285-104C>A	NP_851830.1:n.285-104C>A
NR_024048.2:n.716+20C>A
XM_006724836.1:c.339-104C>A	XP_006724899.1:n.339-104C>A
XM_006724837.1:c.339-104C>A	XP_006724900.1:n.339-104C>A
XM_006724839.1:c.339-104C>A	XP_006724902.1:n.339-104C>A
XM_006724841.2:c.77+39C>A	XP_006724904.1:n.77+39C>A
XM_006724842.2:c.77+39C>A	XP_006724905.1:n.77+39C>A
XM_011531189.1:c.339-104C>A	XP_011529491.1:n.339-104C>A
XM_011531190.1:c.77+39C>A	XP_011529492.1:n.77+39C>A
XM_011531191.1:c.9-104C>A	XP_011529493.1:n.9-104C>A
XM_011531192.1:c.5+8C>A	XP_011529494.1:n.5+8C>A
XR_938511.1:n.642-104C>A
XM_006724841.4:c.77+39C>A	XP_006724904.1:n.77+39C>A
XM_006724842.4:c.77+39C>A	XP_006724905.1:n.77+39C>A
XM_011531191.2:c.9-104C>A	XP_011529493.1:n.9-104C>A
XM_017029761.1:c.285-104C>A	XP_016885250.1:n.285-104C>A
XM_017029762.1:c.339-104C>A	XP_016885251.1:n.339-104C>A
XM_017029763.1:c.285-104C>A	XP_016885252.1:n.285-104C>A
XM_017029764.1:c.5+8C>A	XP_016885253.1:n.5+8C>A
XM_017029765.2:c.77+39C>A	XP_016885254.1:n.77+39C>A
XM_024452431.1:c.339-104C>A	XP_024308199.1:n.339-104C>A
NM_000116.5:c.285-104C>A MANE Select	NP_000107.1:n.285-104C>A
NM_001303465.2:c.339-104C>A	NP_001290394.1:n.339-104C>A
NM_181311.4:c.285-104C>A	NP_851828.1:n.285-104C>A
NM_181312.4:c.285-104C>A	NP_851829.1:n.285-104C>A
NM_181313.4:c.285-104C>A	NP_851830.1:n.285-104C>A
NR_024048.3:n.695+20C>A