Canonical Allele Identifier: CA415180179

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154412199-G-A
• MyVariant Identifiers: chrX:g.153640536G>A (hg19) ; chrX:g.154412199G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412199G>A , CM000685.2:g.154412199G>A	GRCh38
NC_000023.10:g.153640536G>A , CM000685.1:g.153640536G>A	GRCh37
NC_000023.9:g.153293730G>A	NCBI36
NG_009634.1:g.5660G>A
NG_012884.2:g.4890C>T
NG_009634.2:g.5665G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.651G>A
ENST00000698235.1:n.210G>A
ENST00000698317.1:n.185G>A
ENST00000698318.1:n.46G>A
ENST00000475699.6:c.277G>A	ENSP00000419854.3:p.Asp93Asn
ENST00000476800.2:n.188G>A
ENST00000483674.3:n.114G>A
ENST00000601016.6:c.223G>A MANE Select	ENSP00000469981.1:p.Asp75Asn
ENST00000612012.5:c.223G>A	ENSP00000482070.2:p.Asp75Asn
ENST00000612460.5:c.223G>A	ENSP00000481037.1:p.Asp75Asn
ENST00000614595.2:n.581G>A
ENST00000615658.5:n.536G>A
ENST00000616020.5:c.277G>A	ENSP00000483636.2:p.Asp93Asn
ENST00000617701.5:c.223G>A	ENSP00000481645.1:p.Asp75Asn
ENST00000621647.2:n.276G>A
ENST00000652358.1:c.-57+247G>A	ENSP00000498464.1:n.-57+247G>A
ENST00000652390.1:c.142G>A	ENSP00000498858.1:p.Asp48Asn
ENST00000652476.1:n.384G>A
ENST00000652682.1:c.223G>A	ENSP00000498288.1:p.Asp75Asn
ENST00000652685.1:n.275G>A
ENST00000369776.8:c.163+193G>A	ENSP00000358791.4:n.163+193G>A
ENST00000426231.5:c.39G>A
ENST00000439735.2:c.223G>A	ENSP00000398193.1:p.Asp75Asn
ENST00000475699.5:c.223G>A	ENSP00000419854.2:p.Asp75Asn
ENST00000601016.5:c.223G>A	ENSP00000469981.1:p.Asp75Asn
ENST00000612012.4:c.277G>A	ENSP00000482070.1:p.Asp93Asn
ENST00000612460.4:c.223G>A	ENSP00000481037.1:p.Asp75Asn
ENST00000613002.4:c.223G>A	ENSP00000478154.1:p.Asp75Asn
ENST00000613634.4:n.543G>A
ENST00000614595.1:n.442G>A
ENST00000615658.4:n.549G>A
ENST00000615986.4:c.223G>A	ENSP00000480133.1:p.Asp75Asn
ENST00000616020.4:c.277G>A	ENSP00000483636.1:p.Asp93Asn
ENST00000617701.4:c.223G>A	ENSP00000481645.1:p.Asp75Asn
ENST00000620808.4:c.223G>A	ENSP00000479311.1:p.Asp75Asn
ENST00000621647.1:n.508G>A
NM_000116.4:c.223G>A	NP_000107.1:p.Asp75Asn
NM_001303465.1:c.277G>A	NP_001290394.1:p.Asp93Asn
NM_181311.3:c.223G>A	NP_851828.1:p.Asp75Asn
NM_181312.3:c.223G>A	NP_851829.1:p.Asp75Asn
NM_181313.3:c.223G>A	NP_851830.1:p.Asp75Asn
NR_024048.2:n.549G>A
XM_006724836.1:c.277G>A	XP_006724899.1:p.Asp93Asn
XM_006724837.1:c.277G>A	XP_006724900.1:p.Asp93Asn
XM_006724839.1:c.277G>A	XP_006724902.1:p.Asp93Asn
XM_006724841.2:c.-72G>A	XP_006724904.1:n.-72G>A
XM_006724842.2:c.-72G>A	XP_006724905.1:n.-72G>A
XM_011531189.1:c.277G>A	XP_011529491.1:p.Asp93Asn
XR_938511.1:n.580G>A
XM_006724841.4:c.-72G>A	XP_006724904.1:n.-72G>A
XM_006724842.4:c.-72G>A	XP_006724905.1:n.-72G>A
XM_017029761.1:c.223G>A	XP_016885250.1:p.Asp75Asn
XM_017029762.1:c.277G>A	XP_016885251.1:p.Asp93Asn
XM_017029763.1:c.223G>A	XP_016885252.1:p.Asp75Asn
XM_017029765.2:c.-72G>A	XP_016885254.1:n.-72G>A
XM_024452431.1:c.277G>A	XP_024308199.1:p.Asp93Asn
NM_000116.5:c.223G>A MANE Select	NP_000107.1:p.Asp75Asn
NM_001303465.2:c.277G>A	NP_001290394.1:p.Asp93Asn
NM_181311.4:c.223G>A	NP_851828.1:p.Asp75Asn
NM_181312.4:c.223G>A	NP_851829.1:p.Asp75Asn
NM_181313.4:c.223G>A	NP_851830.1:p.Asp75Asn
NR_024048.3:n.528G>A