Canonical Allele Identifier: CA337285976

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs933648100
• gnomAD v2: X-153641755-G-A
• gnomAD v3: X-154413418-G-A
• gnomAD v4: X-154413418-G-A
• MyVariant Identifiers: chrX:g.153641755G>A (hg19) ; chrX:g.154413418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413418G>A , CM000685.2:g.154413418G>A	GRCh38
NC_000023.10:g.153641755G>A , CM000685.1:g.153641755G>A	GRCh37
NC_000023.9:g.153294949G>A	NCBI36
NG_009634.1:g.6879G>A
NG_012884.2:g.3671C>T
NG_009634.2:g.6884G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.818+60G>A
ENST00000698235.1:n.359-64G>A
ENST00000698317.1:n.1344+60G>A
ENST00000698318.1:n.1217+48G>A
ENST00000470127.2:n.499G>A
ENST00000475699.6:c.339-64G>A	ENSP00000419854.3:n.339-64G>A
ENST00000476800.2:n.1407G>A
ENST00000483674.3:n.176-64G>A
ENST00000601016.6:c.285-64G>A MANE Select	ENSP00000469981.1:n.285-64G>A
ENST00000612012.5:c.285-64G>A	ENSP00000482070.2:n.285-64G>A
ENST00000612460.5:c.285-64G>A	ENSP00000481037.1:n.285-64G>A
ENST00000614595.2:n.1722-64G>A
ENST00000615658.5:n.598-64G>A
ENST00000616020.5:c.339-64G>A	ENSP00000483636.2:n.339-64G>A
ENST00000617701.5:c.*102+60G>A	ENSP00000481645.1:n.*102+60G>A
ENST00000621647.2:n.503G>A
ENST00000652354.1:c.9-64G>A	ENSP00000498734.1:n.9-64G>A
ENST00000652358.1:c.78-64G>A	ENSP00000498464.1:n.78-64G>A
ENST00000652390.1:c.204-64G>A	ENSP00000498858.1:n.204-64G>A
ENST00000652476.1:n.611G>A
ENST00000652682.1:c.285-64G>A	ENSP00000498288.1:n.285-64G>A
ENST00000652685.1:n.442+60G>A
ENST00000369776.8:c.210-64G>A	ENSP00000358791.4:n.210-64G>A
ENST00000426231.5:c.201-64G>A
ENST00000439735.2:c.285-64G>A	ENSP00000398193.1:n.285-64G>A
ENST00000475699.5:c.285-64G>A	ENSP00000419854.2:n.285-64G>A
ENST00000476679.5:n.198-64G>A
ENST00000476800.1:n.328G>A
ENST00000479875.1:n.314-64G>A
ENST00000483780.5:n.59-64G>A
ENST00000601016.5:c.285-64G>A	ENSP00000469981.1:n.285-64G>A
ENST00000612012.4:c.339-64G>A	ENSP00000482070.1:n.339-64G>A
ENST00000612460.4:c.285-64G>A	ENSP00000481037.1:n.285-64G>A
ENST00000613002.4:c.285-64G>A	ENSP00000478154.1:n.285-64G>A
ENST00000613634.4:n.605-64G>A
ENST00000615658.4:n.698-64G>A
ENST00000615986.4:c.*102+60G>A	ENSP00000480133.1:n.*102+60G>A
ENST00000616020.4:c.339-64G>A	ENSP00000483636.1:n.339-64G>A
ENST00000617701.4:c.*114+48G>A	ENSP00000481645.1:n.*114+48G>A
ENST00000620808.4:c.*84-64G>A	ENSP00000479311.1:n.*84-64G>A
ENST00000621647.1:n.735G>A
NM_000116.4:c.285-64G>A	NP_000107.1:n.285-64G>A
NM_001303465.1:c.339-64G>A	NP_001290394.1:n.339-64G>A
NM_181311.3:c.285-64G>A	NP_851828.1:n.285-64G>A
NM_181312.3:c.285-64G>A	NP_851829.1:n.285-64G>A
NM_181313.3:c.285-64G>A	NP_851830.1:n.285-64G>A
NR_024048.2:n.716+60G>A
XM_006724836.1:c.339-64G>A	XP_006724899.1:n.339-64G>A
XM_006724837.1:c.339-64G>A	XP_006724900.1:n.339-64G>A
XM_006724839.1:c.339-64G>A	XP_006724902.1:n.339-64G>A
XM_006724841.2:c.78-64G>A	XP_006724904.1:n.78-64G>A
XM_006724842.2:c.78-64G>A	XP_006724905.1:n.78-64G>A
XM_011531189.1:c.339-64G>A	XP_011529491.1:n.339-64G>A
XM_011531190.1:c.78-64G>A	XP_011529492.1:n.78-64G>A
XM_011531191.1:c.9-64G>A	XP_011529493.1:n.9-64G>A
XM_011531192.1:c.5+48G>A	XP_011529494.1:n.5+48G>A
XR_938511.1:n.642-64G>A
XM_006724841.4:c.78-64G>A	XP_006724904.1:n.78-64G>A
XM_006724842.4:c.78-64G>A	XP_006724905.1:n.78-64G>A
XM_011531191.2:c.9-64G>A	XP_011529493.1:n.9-64G>A
XM_017029761.1:c.285-64G>A	XP_016885250.1:n.285-64G>A
XM_017029762.1:c.339-64G>A	XP_016885251.1:n.339-64G>A
XM_017029763.1:c.285-64G>A	XP_016885252.1:n.285-64G>A
XM_017029764.1:c.5+48G>A	XP_016885253.1:n.5+48G>A
XM_017029765.2:c.78-64G>A	XP_016885254.1:n.78-64G>A
XM_024452431.1:c.339-64G>A	XP_024308199.1:n.339-64G>A
NM_000116.5:c.285-64G>A MANE Select	NP_000107.1:n.285-64G>A
NM_001303465.2:c.339-64G>A	NP_001290394.1:n.339-64G>A
NM_181311.4:c.285-64G>A	NP_851828.1:n.285-64G>A
NM_181312.4:c.285-64G>A	NP_851829.1:n.285-64G>A
NM_181313.4:c.285-64G>A	NP_851830.1:n.285-64G>A
NR_024048.3:n.695+60G>A