Canonical Allele Identifier: CA415185154

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648573C>A (hg19) ; chrX:g.154420234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420234C>A , CM000685.2:g.154420234C>A	GRCh38
NC_000023.10:g.153648573C>A , CM000685.1:g.153648573C>A	GRCh37
NC_000023.9:g.153301767C>A	NCBI36
NG_009634.1:g.13697C>A
NG_009634.2:g.13700C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1479C>A
ENST00000698317.1:n.2095C>A
ENST00000698318.1:n.1878C>A
ENST00000698319.1:n.1241C>A
ENST00000698320.1:n.1129C>A
ENST00000470127.2:n.1142C>A
ENST00000475699.6:c.633C>A	ENSP00000419854.3:p.Asn211Lys
ENST00000483674.3:n.551C>A
ENST00000601016.6:c.669C>A MANE Select	ENSP00000469981.1:p.Asn223Lys
ENST00000612012.5:c.627C>A	ENSP00000482070.2:p.Asn209Lys
ENST00000612460.5:c.579C>A	ENSP00000481037.1:p.Asn193Lys
ENST00000614595.2:n.2016C>A
ENST00000615658.5:n.1258C>A
ENST00000616020.5:c.681C>A	ENSP00000483636.2:p.Asn227Lys
ENST00000617701.5:c.*682C>A	ENSP00000481645.1:n.*682C>A
ENST00000652354.1:c.351C>A	ENSP00000498734.1:p.Asn117Lys
ENST00000652358.1:c.462C>A	ENSP00000498464.1:p.Asn154Lys
ENST00000652390.1:c.588C>A	ENSP00000498858.1:p.Asn196Lys
ENST00000652476.1:n.1335C>A
ENST00000652644.1:c.282C>A	ENSP00000498496.1:p.Asn94Lys
ENST00000652682.1:c.726C>A	ENSP00000498288.1:p.Asn242Lys
ENST00000652685.1:n.1022C>A
ENST00000369776.8:c.579C>A	ENSP00000358791.4:p.Asn193Lys
ENST00000426231.5:c.666C>A
ENST00000475699.5:c.627C>A	ENSP00000419854.2:p.Asn209Lys
ENST00000494912.5:n.1358C>A
ENST00000498029.1:n.127C>A
ENST00000601016.5:c.669C>A	ENSP00000469981.1:p.Asn223Lys
ENST00000612460.4:c.579C>A	ENSP00000481037.1:p.Asn193Lys
ENST00000613002.4:c.537C>A	ENSP00000478154.1:p.Asn179Lys
ENST00000615986.4:c.*397C>A	ENSP00000480133.1:n.*397C>A
NM_000116.4:c.669C>A	NP_000107.1:p.Asn223Lys
NM_001303465.1:c.681C>A	NP_001290394.1:p.Asn227Lys
NM_181311.3:c.579C>A	NP_851828.1:p.Asn193Lys
NM_181312.3:c.627C>A	NP_851829.1:p.Asn209Lys
NM_181313.3:c.537C>A	NP_851830.1:p.Asn179Lys
NR_024048.2:n.1011C>A
XM_006724836.1:c.723C>A	XP_006724899.1:p.Asn241Lys
XM_006724837.1:c.708C>A	XP_006724900.1:p.Asn236Lys
XM_006724839.1:c.591C>A	XP_006724902.1:p.Asn197Lys
XM_006724841.2:c.462C>A	XP_006724904.1:p.Asn154Lys
XM_006724842.2:c.372C>A	XP_006724905.1:p.Asn124Lys
XM_011531189.1:c.510C>A	XP_011529491.1:p.Asn170Lys
XM_011531190.1:c.462C>A	XP_011529492.1:p.Asn154Lys
XM_011531191.1:c.393C>A	XP_011529493.1:p.Asn131Lys
XM_011531192.1:c.390C>A	XP_011529494.1:p.Asn130Lys
XR_938511.1:n.1017C>A
XM_006724841.4:c.462C>A	XP_006724904.1:p.Asn154Lys
XM_006724842.4:c.372C>A	XP_006724905.1:p.Asn124Lys
XM_011531191.2:c.393C>A	XP_011529493.1:p.Asn131Lys
XM_017029761.1:c.654C>A	XP_016885250.1:p.Asn218Lys
XM_017029762.1:c.633C>A	XP_016885251.1:p.Asn211Lys
XM_017029763.1:c.456C>A	XP_016885252.1:p.Asn152Lys
XM_017029764.1:c.390C>A	XP_016885253.1:p.Asn130Lys
XM_017029765.2:c.330C>A	XP_016885254.1:p.Asn110Lys
XM_024452431.1:c.627C>A	XP_024308199.1:p.Asn209Lys
NM_000116.5:c.669C>A MANE Select	NP_000107.1:p.Asn223Lys
NM_001303465.2:c.681C>A	NP_001290394.1:p.Asn227Lys
NM_181311.4:c.579C>A	NP_851828.1:p.Asn193Lys
NM_181312.4:c.627C>A	NP_851829.1:p.Asn209Lys
NM_181313.4:c.537C>A	NP_851830.1:p.Asn179Lys
NR_024048.3:n.990C>A