Canonical Allele Identifier: CA415182025

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153641886T>G (hg19) ; chrX:g.154413549T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413549T>G , CM000685.2:g.154413549T>G	GRCh38
NC_000023.10:g.153641886T>G , CM000685.1:g.153641886T>G	GRCh37
NC_000023.9:g.153295080T>G	NCBI36
NG_009634.1:g.7010T>G
NG_012884.2:g.3540A>C
NG_009634.2:g.7015T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.886T>G
ENST00000698235.1:n.426T>G
ENST00000698317.1:n.1412T>G
ENST00000698318.1:n.1285T>G
ENST00000470127.2:n.630T>G
ENST00000475699.6:c.406T>G	ENSP00000419854.3:p.Cys136Gly
ENST00000476800.2:n.1538T>G
ENST00000483674.3:n.243T>G
ENST00000601016.6:c.352T>G MANE Select	ENSP00000469981.1:p.Cys118Gly
ENST00000612012.5:c.352T>G	ENSP00000482070.2:p.Cys118Gly
ENST00000612460.5:c.352T>G	ENSP00000481037.1:p.Cys118Gly
ENST00000614595.2:n.1789T>G
ENST00000615658.5:n.665T>G
ENST00000616020.5:c.406T>G	ENSP00000483636.2:p.Cys136Gly
ENST00000617701.5:c.*170T>G	ENSP00000481645.1:n.*170T>G
ENST00000621647.2:n.634T>G
ENST00000652354.1:c.76T>G	ENSP00000498734.1:p.Cys26Gly
ENST00000652358.1:c.145T>G	ENSP00000498464.1:p.Cys49Gly
ENST00000652390.1:c.271T>G	ENSP00000498858.1:p.Cys91Gly
ENST00000652476.1:n.742T>G
ENST00000652682.1:c.352T>G	ENSP00000498288.1:p.Cys118Gly
ENST00000652685.1:n.510T>G
ENST00000369776.8:c.277T>G	ENSP00000358791.4:p.Cys93Gly
ENST00000426231.5:c.268T>G
ENST00000439735.2:c.352T>G	ENSP00000398193.1:p.Cys118Gly
ENST00000470127.1:n.21T>G
ENST00000475699.5:c.352T>G	ENSP00000419854.2:p.Cys118Gly
ENST00000476679.5:n.265T>G
ENST00000476800.1:n.459T>G
ENST00000479875.1:n.381T>G
ENST00000483674.2:n.61T>G
ENST00000483780.5:n.126T>G
ENST00000601016.5:c.352T>G	ENSP00000469981.1:p.Cys118Gly
ENST00000612012.4:c.406T>G	ENSP00000482070.1:p.Cys136Gly
ENST00000612460.4:c.352T>G	ENSP00000481037.1:p.Cys118Gly
ENST00000613002.4:c.352T>G	ENSP00000478154.1:p.Cys118Gly
ENST00000613634.4:n.672T>G
ENST00000615658.4:n.765T>G
ENST00000615986.4:c.*170T>G	ENSP00000480133.1:n.*170T>G
ENST00000616020.4:c.406T>G	ENSP00000483636.1:p.Cys136Gly
ENST00000617701.4:c.*182T>G	ENSP00000481645.1:n.*182T>G
ENST00000620808.4:c.*151T>G	ENSP00000479311.1:n.*151T>G
ENST00000621647.1:n.866T>G
NM_000116.4:c.352T>G	NP_000107.1:p.Cys118Gly
NM_001303465.1:c.406T>G	NP_001290394.1:p.Cys136Gly
NM_181311.3:c.352T>G	NP_851828.1:p.Cys118Gly
NM_181312.3:c.352T>G	NP_851829.1:p.Cys118Gly
NM_181313.3:c.352T>G	NP_851830.1:p.Cys118Gly
NR_024048.2:n.784T>G
XM_006724836.1:c.406T>G	XP_006724899.1:p.Cys136Gly
XM_006724837.1:c.406T>G	XP_006724900.1:p.Cys136Gly
XM_006724839.1:c.406T>G	XP_006724902.1:p.Cys136Gly
XM_006724841.2:c.145T>G	XP_006724904.1:p.Cys49Gly
XM_006724842.2:c.145T>G	XP_006724905.1:p.Cys49Gly
XM_011531189.1:c.406T>G	XP_011529491.1:p.Cys136Gly
XM_011531190.1:c.145T>G	XP_011529492.1:p.Cys49Gly
XM_011531191.1:c.76T>G	XP_011529493.1:p.Cys26Gly
XM_011531192.1:c.73T>G	XP_011529494.1:p.Cys25Gly
XR_938511.1:n.709T>G
XM_006724841.4:c.145T>G	XP_006724904.1:p.Cys49Gly
XM_006724842.4:c.145T>G	XP_006724905.1:p.Cys49Gly
XM_011531191.2:c.76T>G	XP_011529493.1:p.Cys26Gly
XM_017029761.1:c.352T>G	XP_016885250.1:p.Cys118Gly
XM_017029762.1:c.406T>G	XP_016885251.1:p.Cys136Gly
XM_017029763.1:c.352T>G	XP_016885252.1:p.Cys118Gly
XM_017029764.1:c.73T>G	XP_016885253.1:p.Cys25Gly
XM_017029765.2:c.145T>G	XP_016885254.1:p.Cys49Gly
XM_024452431.1:c.406T>G	XP_024308199.1:p.Cys136Gly
NM_000116.5:c.352T>G MANE Select	NP_000107.1:p.Cys118Gly
NM_001303465.2:c.406T>G	NP_001290394.1:p.Cys136Gly
NM_181311.4:c.352T>G	NP_851828.1:p.Cys118Gly
NM_181312.4:c.352T>G	NP_851829.1:p.Cys118Gly
NM_181313.4:c.352T>G	NP_851830.1:p.Cys118Gly
NR_024048.3:n.763T>G