Canonical Allele Identifier: CA415179904

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs2068329500
• gnomAD v4: X-154412172-G-A
• MyVariant Identifiers: chrX:g.153640509G>A (hg19) ; chrX:g.154412172G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154412172G>A , CM000685.2:g.154412172G>A	GRCh38
NC_000023.10:g.153640509G>A , CM000685.1:g.153640509G>A	GRCh37
NC_000023.9:g.153293703G>A	NCBI36
NG_009634.1:g.5633G>A
NG_012884.2:g.4917C>T
NG_009634.2:g.5638G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.624G>A
ENST00000698235.1:n.183G>A
ENST00000698317.1:n.158G>A
ENST00000698318.1:n.19G>A
ENST00000475699.6:c.250G>A	ENSP00000419854.3:p.Val84Met
ENST00000476800.2:n.161G>A
ENST00000483674.3:n.87G>A
ENST00000601016.6:c.196G>A MANE Select	ENSP00000469981.1:p.Val66Met
ENST00000612012.5:c.196G>A	ENSP00000482070.2:p.Val66Met
ENST00000612460.5:c.196G>A	ENSP00000481037.1:p.Val66Met
ENST00000614595.2:n.554G>A
ENST00000615658.5:n.509G>A
ENST00000616020.5:c.250G>A	ENSP00000483636.2:p.Val84Met
ENST00000617701.5:c.196G>A	ENSP00000481645.1:p.Val66Met
ENST00000621647.2:n.249G>A
ENST00000652358.1:c.-57+220G>A	ENSP00000498464.1:n.-57+220G>A
ENST00000652390.1:c.115G>A	ENSP00000498858.1:p.Val39Met
ENST00000652476.1:n.357G>A
ENST00000652682.1:c.196G>A	ENSP00000498288.1:p.Val66Met
ENST00000652685.1:n.248G>A
ENST00000369776.8:c.163+166G>A	ENSP00000358791.4:n.163+166G>A
ENST00000426231.5:c.12G>A
ENST00000439735.2:c.196G>A	ENSP00000398193.1:p.Val66Met
ENST00000475699.5:c.196G>A	ENSP00000419854.2:p.Val66Met
ENST00000601016.5:c.196G>A	ENSP00000469981.1:p.Val66Met
ENST00000612012.4:c.250G>A	ENSP00000482070.1:p.Val84Met
ENST00000612460.4:c.196G>A	ENSP00000481037.1:p.Val66Met
ENST00000613002.4:c.196G>A	ENSP00000478154.1:p.Val66Met
ENST00000613634.4:n.516G>A
ENST00000614595.1:n.415G>A
ENST00000615658.4:n.522G>A
ENST00000615986.4:c.196G>A	ENSP00000480133.1:p.Val66Met
ENST00000616020.4:c.250G>A	ENSP00000483636.1:p.Val84Met
ENST00000617701.4:c.196G>A	ENSP00000481645.1:p.Val66Met
ENST00000620808.4:c.196G>A	ENSP00000479311.1:p.Val66Met
ENST00000621647.1:n.481G>A
NM_000116.4:c.196G>A	NP_000107.1:p.Val66Met
NM_001303465.1:c.250G>A	NP_001290394.1:p.Val84Met
NM_181311.3:c.196G>A	NP_851828.1:p.Val66Met
NM_181312.3:c.196G>A	NP_851829.1:p.Val66Met
NM_181313.3:c.196G>A	NP_851830.1:p.Val66Met
NR_024048.2:n.522G>A
XM_006724836.1:c.250G>A	XP_006724899.1:p.Val84Met
XM_006724837.1:c.250G>A	XP_006724900.1:p.Val84Met
XM_006724839.1:c.250G>A	XP_006724902.1:p.Val84Met
XM_006724841.2:c.-99G>A	XP_006724904.1:n.-99G>A
XM_006724842.2:c.-99G>A	XP_006724905.1:n.-99G>A
XM_011531189.1:c.250G>A	XP_011529491.1:p.Val84Met
XR_938511.1:n.553G>A
XM_006724841.4:c.-99G>A	XP_006724904.1:n.-99G>A
XM_006724842.4:c.-99G>A	XP_006724905.1:n.-99G>A
XM_017029761.1:c.196G>A	XP_016885250.1:p.Val66Met
XM_017029762.1:c.250G>A	XP_016885251.1:p.Val84Met
XM_017029763.1:c.196G>A	XP_016885252.1:p.Val66Met
XM_017029765.2:c.-99G>A	XP_016885254.1:n.-99G>A
XM_024452431.1:c.250G>A	XP_024308199.1:p.Val84Met
NM_000116.5:c.196G>A MANE Select	NP_000107.1:p.Val66Met
NM_001303465.2:c.250G>A	NP_001290394.1:p.Val84Met
NM_181311.4:c.196G>A	NP_851828.1:p.Val66Met
NM_181312.4:c.196G>A	NP_851829.1:p.Val66Met
NM_181313.4:c.196G>A	NP_851830.1:p.Val66Met
NR_024048.3:n.501G>A