Canonical Allele Identifier: CA415181044

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2506910
• ClinVar RCV Id: RCV003237279
• MyVariant Identifiers: chrX:g.153641836A>T (hg19) ; chrX:g.154413499A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154413499A>T , CM000685.2:g.154413499A>T	GRCh38
NC_000023.10:g.153641836A>T , CM000685.1:g.153641836A>T	GRCh37
NC_000023.9:g.153295030A>T	NCBI36
NG_009634.1:g.6960A>T
NG_012884.2:g.3590T>A
NG_009634.2:g.6965A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.836A>T
ENST00000698235.1:n.376A>T
ENST00000698317.1:n.1362A>T
ENST00000698318.1:n.1235A>T
ENST00000470127.2:n.580A>T
ENST00000475699.6:c.356A>T	ENSP00000419854.3:p.Asp119Val
ENST00000476800.2:n.1488A>T
ENST00000483674.3:n.193A>T
ENST00000601016.6:c.302A>T MANE Select	ENSP00000469981.1:p.Asp101Val
ENST00000612012.5:c.302A>T	ENSP00000482070.2:p.Asp101Val
ENST00000612460.5:c.302A>T	ENSP00000481037.1:p.Asp101Val
ENST00000614595.2:n.1739A>T
ENST00000615658.5:n.615A>T
ENST00000616020.5:c.356A>T	ENSP00000483636.2:p.Asp119Val
ENST00000617701.5:c.*120A>T	ENSP00000481645.1:n.*120A>T
ENST00000621647.2:n.584A>T
ENST00000652354.1:c.26A>T	ENSP00000498734.1:p.Asp9Val
ENST00000652358.1:c.95A>T	ENSP00000498464.1:p.Asp32Val
ENST00000652390.1:c.221A>T	ENSP00000498858.1:p.Asp74Val
ENST00000652476.1:n.692A>T
ENST00000652682.1:c.302A>T	ENSP00000498288.1:p.Asp101Val
ENST00000652685.1:n.460A>T
ENST00000369776.8:c.227A>T	ENSP00000358791.4:p.Asp76Val
ENST00000426231.5:c.218A>T
ENST00000439735.2:c.302A>T	ENSP00000398193.1:p.Asp101Val
ENST00000475699.5:c.302A>T	ENSP00000419854.2:p.Asp101Val
ENST00000476679.5:n.215A>T
ENST00000476800.1:n.409A>T
ENST00000479875.1:n.331A>T
ENST00000483674.2:n.11A>T
ENST00000483780.5:n.76A>T
ENST00000601016.5:c.302A>T	ENSP00000469981.1:p.Asp101Val
ENST00000612012.4:c.356A>T	ENSP00000482070.1:p.Asp119Val
ENST00000612460.4:c.302A>T	ENSP00000481037.1:p.Asp101Val
ENST00000613002.4:c.302A>T	ENSP00000478154.1:p.Asp101Val
ENST00000613634.4:n.622A>T
ENST00000615658.4:n.715A>T
ENST00000615986.4:c.*120A>T	ENSP00000480133.1:n.*120A>T
ENST00000616020.4:c.356A>T	ENSP00000483636.1:p.Asp119Val
ENST00000617701.4:c.*132A>T	ENSP00000481645.1:n.*132A>T
ENST00000620808.4:c.*101A>T	ENSP00000479311.1:n.*101A>T
ENST00000621647.1:n.816A>T
NM_000116.4:c.302A>T	NP_000107.1:p.Asp101Val
NM_001303465.1:c.356A>T	NP_001290394.1:p.Asp119Val
NM_181311.3:c.302A>T	NP_851828.1:p.Asp101Val
NM_181312.3:c.302A>T	NP_851829.1:p.Asp101Val
NM_181313.3:c.302A>T	NP_851830.1:p.Asp101Val
NR_024048.2:n.734A>T
XM_006724836.1:c.356A>T	XP_006724899.1:p.Asp119Val
XM_006724837.1:c.356A>T	XP_006724900.1:p.Asp119Val
XM_006724839.1:c.356A>T	XP_006724902.1:p.Asp119Val
XM_006724841.2:c.95A>T	XP_006724904.1:p.Asp32Val
XM_006724842.2:c.95A>T	XP_006724905.1:p.Asp32Val
XM_011531189.1:c.356A>T	XP_011529491.1:p.Asp119Val
XM_011531190.1:c.95A>T	XP_011529492.1:p.Asp32Val
XM_011531191.1:c.26A>T	XP_011529493.1:p.Asp9Val
XM_011531192.1:c.23A>T	XP_011529494.1:p.Asp8Val
XR_938511.1:n.659A>T
XM_006724841.4:c.95A>T	XP_006724904.1:p.Asp32Val
XM_006724842.4:c.95A>T	XP_006724905.1:p.Asp32Val
XM_011531191.2:c.26A>T	XP_011529493.1:p.Asp9Val
XM_017029761.1:c.302A>T	XP_016885250.1:p.Asp101Val
XM_017029762.1:c.356A>T	XP_016885251.1:p.Asp119Val
XM_017029763.1:c.302A>T	XP_016885252.1:p.Asp101Val
XM_017029764.1:c.23A>T	XP_016885253.1:p.Asp8Val
XM_017029765.2:c.95A>T	XP_016885254.1:p.Asp32Val
XM_024452431.1:c.356A>T	XP_024308199.1:p.Asp119Val
NM_000116.5:c.302A>T MANE Select	NP_000107.1:p.Asp101Val
NM_001303465.2:c.356A>T	NP_001290394.1:p.Asp119Val
NM_181311.4:c.302A>T	NP_851828.1:p.Asp101Val
NM_181312.4:c.302A>T	NP_851829.1:p.Asp101Val
NM_181313.4:c.302A>T	NP_851830.1:p.Asp101Val
NR_024048.3:n.713A>T