Canonical Allele Identifier: CA415184463

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 426783
• ClinVar RCV Id: RCV000489828 ; RCV000816124
• dbSNP Id: rs1085307797
• gnomAD v4: X-154420094-G-A
• MyVariant Identifiers: chrX:g.153648433G>A (hg19) ; chrX:g.154420094G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420094G>A , CM000685.2:g.154420094G>A	GRCh38
NC_000023.10:g.153648433G>A , CM000685.1:g.153648433G>A	GRCh37
NC_000023.9:g.153301627G>A	NCBI36
NG_009634.1:g.13557G>A
NG_009634.2:g.13560G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1456G>A
ENST00000698317.1:n.2072G>A
ENST00000698318.1:n.1855G>A
ENST00000698319.1:n.1218G>A
ENST00000698320.1:n.1106G>A
ENST00000470127.2:n.1119G>A
ENST00000475699.6:c.610G>A	ENSP00000419854.3:p.Gly204Arg
ENST00000483674.3:n.528G>A
ENST00000601016.6:c.646G>A MANE Select	ENSP00000469981.1:p.Gly216Arg
ENST00000612012.5:c.604G>A	ENSP00000482070.2:p.Gly202Arg
ENST00000612460.5:c.556G>A	ENSP00000481037.1:p.Gly186Arg
ENST00000614595.2:n.1993G>A
ENST00000615658.5:n.1235G>A
ENST00000616020.5:c.658G>A	ENSP00000483636.2:p.Gly220Arg
ENST00000617701.5:c.*659G>A	ENSP00000481645.1:n.*659G>A
ENST00000652354.1:c.328G>A	ENSP00000498734.1:p.Gly110Arg
ENST00000652358.1:c.439G>A	ENSP00000498464.1:p.Gly147Arg
ENST00000652390.1:c.565G>A	ENSP00000498858.1:p.Gly189Arg
ENST00000652476.1:n.1312G>A
ENST00000652644.1:c.259G>A	ENSP00000498496.1:p.Gly87Arg
ENST00000652682.1:c.703G>A	ENSP00000498288.1:p.Gly235Arg
ENST00000652685.1:n.999G>A
ENST00000369776.8:c.439G>A	ENSP00000358791.4:p.Gly147Ser
ENST00000426231.5:c.643G>A
ENST00000439735.2:c.553G>A
ENST00000470127.1:n.225G>A
ENST00000475699.5:c.604G>A	ENSP00000419854.2:p.Gly202Arg
ENST00000494912.5:n.1335G>A
ENST00000498029.1:n.104G>A
ENST00000601016.5:c.646G>A	ENSP00000469981.1:p.Gly216Arg
ENST00000612460.4:c.556G>A	ENSP00000481037.1:p.Gly186Arg
ENST00000613002.4:c.514G>A	ENSP00000478154.1:p.Gly172Arg
ENST00000615986.4:c.*374G>A	ENSP00000480133.1:n.*374G>A
NM_000116.4:c.646G>A	NP_000107.1:p.Gly216Arg
NM_001303465.1:c.658G>A	NP_001290394.1:p.Gly220Arg
NM_181311.3:c.556G>A	NP_851828.1:p.Gly186Arg
NM_181312.3:c.604G>A	NP_851829.1:p.Gly202Arg
NM_181313.3:c.514G>A	NP_851830.1:p.Gly172Arg
NR_024048.2:n.988G>A
XM_006724836.1:c.700G>A	XP_006724899.1:p.Gly234Arg
XM_006724837.1:c.568G>A	XP_006724900.1:p.Gly190Ser
XM_006724839.1:c.568G>A	XP_006724902.1:p.Gly190Arg
XM_006724841.2:c.439G>A	XP_006724904.1:p.Gly147Arg
XM_006724842.2:c.349G>A	XP_006724905.1:p.Gly117Arg
XM_011531189.1:c.487G>A	XP_011529491.1:p.Gly163Arg
XM_011531190.1:c.439G>A	XP_011529492.1:p.Gly147Arg
XM_011531191.1:c.370G>A	XP_011529493.1:p.Gly124Arg
XM_011531192.1:c.367G>A	XP_011529494.1:p.Gly123Arg
XR_938511.1:n.994G>A
XM_006724841.4:c.439G>A	XP_006724904.1:p.Gly147Arg
XM_006724842.4:c.349G>A	XP_006724905.1:p.Gly117Arg
XM_011531191.2:c.370G>A	XP_011529493.1:p.Gly124Arg
XM_017029761.1:c.514G>A	XP_016885250.1:p.Gly172Ser
XM_017029762.1:c.610G>A	XP_016885251.1:p.Gly204Arg
XM_017029763.1:c.433G>A	XP_016885252.1:p.Gly145Arg
XM_017029764.1:c.367G>A	XP_016885253.1:p.Gly123Arg
XM_017029765.2:c.307G>A	XP_016885254.1:p.Gly103Arg
XM_024452431.1:c.487G>A	XP_024308199.1:p.Gly163Ser
NM_000116.5:c.646G>A MANE Select	NP_000107.1:p.Gly216Arg
NM_001303465.2:c.658G>A	NP_001290394.1:p.Gly220Arg
NM_181311.4:c.556G>A	NP_851828.1:p.Gly186Arg
NM_181312.4:c.604G>A	NP_851829.1:p.Gly202Arg
NM_181313.4:c.514G>A	NP_851830.1:p.Gly172Arg
NR_024048.3:n.967G>A