Canonical Allele Identifier: CA415184220

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 1897787
• ClinVar RCV Id: RCV002572612
• MyVariant Identifiers: chrX:g.153648398A>G (hg19) ; chrX:g.154420059A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420059A>G , CM000685.2:g.154420059A>G	GRCh38
NC_000023.10:g.153648398A>G , CM000685.1:g.153648398A>G	GRCh37
NC_000023.9:g.153301592A>G	NCBI36
NG_009634.1:g.13522A>G
NG_009634.2:g.13525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1421A>G
ENST00000698317.1:n.2037A>G
ENST00000698318.1:n.1820A>G
ENST00000698319.1:n.1183A>G
ENST00000698320.1:n.1071A>G
ENST00000470127.2:n.1084A>G
ENST00000475699.6:c.575A>G	ENSP00000419854.3:p.His192Arg
ENST00000483674.3:n.493A>G
ENST00000601016.6:c.611A>G MANE Select	ENSP00000469981.1:p.His204Arg
ENST00000612012.5:c.569A>G	ENSP00000482070.2:p.His190Arg
ENST00000612460.5:c.521A>G	ENSP00000481037.1:p.His174Arg
ENST00000614595.2:n.1958A>G
ENST00000615658.5:n.1200A>G
ENST00000616020.5:c.623A>G	ENSP00000483636.2:p.His208Arg
ENST00000617701.5:c.*624A>G	ENSP00000481645.1:n.*624A>G
ENST00000652354.1:c.293A>G	ENSP00000498734.1:p.His98Arg
ENST00000652358.1:c.404A>G	ENSP00000498464.1:p.His135Arg
ENST00000652390.1:c.530A>G	ENSP00000498858.1:p.His177Arg
ENST00000652476.1:n.1277A>G
ENST00000652644.1:c.224A>G	ENSP00000498496.1:p.His75Arg
ENST00000652682.1:c.668A>G	ENSP00000498288.1:p.His223Arg
ENST00000652685.1:n.964A>G
ENST00000369776.8:c.404A>G	ENSP00000358791.4:p.His135Arg
ENST00000426231.5:c.608A>G
ENST00000439735.2:c.518A>G	ENSP00000398193.1:p.His173Arg
ENST00000470127.1:n.190A>G
ENST00000475699.5:c.569A>G	ENSP00000419854.2:p.His190Arg
ENST00000494912.5:n.1300A>G
ENST00000498029.1:n.69A>G
ENST00000601016.5:c.611A>G	ENSP00000469981.1:p.His204Arg
ENST00000612012.4:c.575A>G	ENSP00000482070.1:p.His192Arg
ENST00000612460.4:c.521A>G	ENSP00000481037.1:p.His174Arg
ENST00000613002.4:c.479A>G	ENSP00000478154.1:p.His160Arg
ENST00000615658.4:n.1300A>G
ENST00000615986.4:c.*339A>G	ENSP00000480133.1:n.*339A>G
ENST00000620808.4:c.*197A>G	ENSP00000479311.1:n.*197A>G
NM_000116.4:c.611A>G	NP_000107.1:p.His204Arg
NM_001303465.1:c.623A>G	NP_001290394.1:p.His208Arg
NM_181311.3:c.521A>G	NP_851828.1:p.His174Arg
NM_181312.3:c.569A>G	NP_851829.1:p.His190Arg
NM_181313.3:c.479A>G	NP_851830.1:p.His160Arg
NR_024048.2:n.953A>G
XM_006724836.1:c.665A>G	XP_006724899.1:p.His222Arg
XM_006724837.1:c.533A>G	XP_006724900.1:p.His178Arg
XM_006724839.1:c.533A>G	XP_006724902.1:p.His178Arg
XM_006724841.2:c.404A>G	XP_006724904.1:p.His135Arg
XM_006724842.2:c.314A>G	XP_006724905.1:p.His105Arg
XM_011531189.1:c.452A>G	XP_011529491.1:p.His151Arg
XM_011531190.1:c.404A>G	XP_011529492.1:p.His135Arg
XM_011531191.1:c.335A>G	XP_011529493.1:p.His112Arg
XM_011531192.1:c.332A>G	XP_011529494.1:p.His111Arg
XR_938511.1:n.959A>G
XM_006724841.4:c.404A>G	XP_006724904.1:p.His135Arg
XM_006724842.4:c.314A>G	XP_006724905.1:p.His105Arg
XM_011531191.2:c.335A>G	XP_011529493.1:p.His112Arg
XM_017029761.1:c.479A>G	XP_016885250.1:p.His160Arg
XM_017029762.1:c.575A>G	XP_016885251.1:p.His192Arg
XM_017029763.1:c.398A>G	XP_016885252.1:p.His133Arg
XM_017029764.1:c.332A>G	XP_016885253.1:p.His111Arg
XM_017029765.2:c.272A>G	XP_016885254.1:p.His91Arg
XM_024452431.1:c.452A>G	XP_024308199.1:p.His151Arg
NM_000116.5:c.611A>G MANE Select	NP_000107.1:p.His204Arg
NM_001303465.2:c.623A>G	NP_001290394.1:p.His208Arg
NM_181311.4:c.521A>G	NP_851828.1:p.His174Arg
NM_181312.4:c.569A>G	NP_851829.1:p.His190Arg
NM_181313.4:c.479A>G	NP_851830.1:p.His160Arg
NR_024048.3:n.932A>G