Canonical Allele Identifier: CA337288845

Gene: TAFAZZIN

Linked Data

• dbSNP Id: rs1011830322
• gnomAD v3: X-154420821-G-A
• gnomAD v4: X-154420821-G-A
• MyVariant Identifiers: chrX:g.154420821G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420821G>A , CM000685.2:g.154420821G>A	GRCh38
NC_000023.10:g.153649160G>A , CM000685.1:g.153649160G>A	GRCh37
NC_000023.9:g.153302354G>A	NCBI36
NG_009634.1:g.14284G>A
NG_009634.2:g.14287G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1588-82G>A
ENST00000698317.1:n.2204-82G>A
ENST00000698318.1:n.1987-82G>A
ENST00000698319.1:n.1350-82G>A
ENST00000698320.1:n.1323G>A
ENST00000470127.2:n.1251-82G>A
ENST00000475699.6:c.742-82G>A	ENSP00000419854.3:n.742-82G>A
ENST00000483674.3:n.660-82G>A
ENST00000601016.6:c.778-82G>A MANE Select	ENSP00000469981.1:n.778-82G>A
ENST00000612012.5:c.736-82G>A	ENSP00000482070.2:n.736-82G>A
ENST00000612460.5:c.688-82G>A	ENSP00000481037.1:n.688-82G>A
ENST00000614595.2:n.2125-82G>A
ENST00000615658.5:n.1367-82G>A
ENST00000616020.5:c.790-82G>A	ENSP00000483636.2:n.790-82G>A
ENST00000617701.5:c.*791-82G>A	ENSP00000481645.1:n.*791-82G>A
ENST00000651139.1:c.-6-82G>A	ENSP00000498957.1:n.-6-82G>A
ENST00000652354.1:c.460-82G>A	ENSP00000498734.1:n.460-82G>A
ENST00000652358.1:c.571-82G>A	ENSP00000498464.1:n.571-82G>A
ENST00000652390.1:c.697-82G>A	ENSP00000498858.1:n.697-82G>A
ENST00000652476.1:n.1444-82G>A
ENST00000652644.1:c.391-82G>A	ENSP00000498496.1:n.391-82G>A
ENST00000652682.1:c.835-82G>A	ENSP00000498288.1:n.835-82G>A
ENST00000652685.1:n.1131-82G>A
ENST00000369776.8:c.688-82G>A	ENSP00000358791.4:n.688-82G>A
ENST00000426231.5:c.775-82G>A
ENST00000475699.5:c.736-82G>A	ENSP00000419854.2:n.736-82G>A
ENST00000494912.5:n.1467-82G>A
ENST00000498029.1:n.236-82G>A
ENST00000601016.5:c.778-82G>A	ENSP00000469981.1:n.778-82G>A
ENST00000612460.4:c.688-82G>A	ENSP00000481037.1:n.688-82G>A
ENST00000613002.4:c.646-82G>A	ENSP00000478154.1:n.646-82G>A
ENST00000615986.4:c.*506-82G>A	ENSP00000480133.1:n.*506-82G>A
NM_000116.4:c.778-82G>A	NP_000107.1:n.778-82G>A
NM_001303465.1:c.790-82G>A	NP_001290394.1:n.790-82G>A
NM_181311.3:c.688-82G>A	NP_851828.1:n.688-82G>A
NM_181312.3:c.736-82G>A	NP_851829.1:n.736-82G>A
NM_181313.3:c.646-82G>A	NP_851830.1:n.646-82G>A
NR_024048.2:n.1120-82G>A
XM_006724836.1:c.832-82G>A	XP_006724899.1:n.832-82G>A
XM_006724837.1:c.817-82G>A	XP_006724900.1:n.817-82G>A
XM_006724839.1:c.700-82G>A	XP_006724902.1:n.700-82G>A
XM_006724841.2:c.571-82G>A	XP_006724904.1:n.571-82G>A
XM_006724842.2:c.481-82G>A	XP_006724905.1:n.481-82G>A
XM_011531189.1:c.619-82G>A	XP_011529491.1:n.619-82G>A
XM_011531190.1:c.571-82G>A	XP_011529492.1:n.571-82G>A
XM_011531191.1:c.502-82G>A	XP_011529493.1:n.502-82G>A
XM_011531192.1:c.499-82G>A	XP_011529494.1:n.499-82G>A
XR_938511.1:n.1126-82G>A
XM_006724841.4:c.571-82G>A	XP_006724904.1:n.571-82G>A
XM_006724842.4:c.481-82G>A	XP_006724905.1:n.481-82G>A
XM_011531191.2:c.502-82G>A	XP_011529493.1:n.502-82G>A
XM_017029761.1:c.763-82G>A	XP_016885250.1:n.763-82G>A
XM_017029762.1:c.742-82G>A	XP_016885251.1:n.742-82G>A
XM_017029763.1:c.565-82G>A	XP_016885252.1:n.565-82G>A
XM_017029764.1:c.499-82G>A	XP_016885253.1:n.499-82G>A
XM_017029765.2:c.439-82G>A	XP_016885254.1:n.439-82G>A
XM_024452431.1:c.736-82G>A	XP_024308199.1:n.736-82G>A
NM_000116.5:c.778-82G>A MANE Select	NP_000107.1:n.778-82G>A
NM_001303465.2:c.790-82G>A	NP_001290394.1:n.790-82G>A
NM_181311.4:c.688-82G>A	NP_851828.1:n.688-82G>A
NM_181312.4:c.736-82G>A	NP_851829.1:n.736-82G>A
NM_181313.4:c.646-82G>A	NP_851830.1:n.646-82G>A
NR_024048.3:n.1099-82G>A