Canonical Allele Identifier: CA415185137

Gene: TAFAZZIN

Linked Data

• gnomAD v4: X-154420229-C-T
• MyVariant Identifiers: chrX:g.153648568C>T (hg19) ; chrX:g.154420229C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420229C>T , CM000685.2:g.154420229C>T	GRCh38
NC_000023.10:g.153648568C>T , CM000685.1:g.153648568C>T	GRCh37
NC_000023.9:g.153301762C>T	NCBI36
NG_009634.1:g.13692C>T
NG_009634.2:g.13695C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1474C>T
ENST00000698317.1:n.2090C>T
ENST00000698318.1:n.1873C>T
ENST00000698319.1:n.1236C>T
ENST00000698320.1:n.1124C>T
ENST00000470127.2:n.1137C>T
ENST00000475699.6:c.628C>T	ENSP00000419854.3:p.Pro210Ser
ENST00000483674.3:n.546C>T
ENST00000601016.6:c.664C>T MANE Select	ENSP00000469981.1:p.Pro222Ser
ENST00000612012.5:c.622C>T	ENSP00000482070.2:p.Pro208Ser
ENST00000612460.5:c.574C>T	ENSP00000481037.1:p.Pro192Ser
ENST00000614595.2:n.2011C>T
ENST00000615658.5:n.1253C>T
ENST00000616020.5:c.676C>T	ENSP00000483636.2:p.Pro226Ser
ENST00000617701.5:c.*677C>T	ENSP00000481645.1:n.*677C>T
ENST00000652354.1:c.346C>T	ENSP00000498734.1:p.Pro116Ser
ENST00000652358.1:c.457C>T	ENSP00000498464.1:p.Pro153Ser
ENST00000652390.1:c.583C>T	ENSP00000498858.1:p.Pro195Ser
ENST00000652476.1:n.1330C>T
ENST00000652644.1:c.277C>T	ENSP00000498496.1:p.Pro93Ser
ENST00000652682.1:c.721C>T	ENSP00000498288.1:p.Pro241Ser
ENST00000652685.1:n.1017C>T
ENST00000369776.8:c.574C>T	ENSP00000358791.4:p.Pro192Ser
ENST00000426231.5:c.661C>T
ENST00000475699.5:c.622C>T	ENSP00000419854.2:p.Pro208Ser
ENST00000494912.5:n.1353C>T
ENST00000498029.1:n.122C>T
ENST00000601016.5:c.664C>T	ENSP00000469981.1:p.Pro222Ser
ENST00000612460.4:c.574C>T	ENSP00000481037.1:p.Pro192Ser
ENST00000613002.4:c.532C>T	ENSP00000478154.1:p.Pro178Ser
ENST00000615986.4:c.*392C>T	ENSP00000480133.1:n.*392C>T
NM_000116.4:c.664C>T	NP_000107.1:p.Pro222Ser
NM_001303465.1:c.676C>T	NP_001290394.1:p.Pro226Ser
NM_181311.3:c.574C>T	NP_851828.1:p.Pro192Ser
NM_181312.3:c.622C>T	NP_851829.1:p.Pro208Ser
NM_181313.3:c.532C>T	NP_851830.1:p.Pro178Ser
NR_024048.2:n.1006C>T
XM_006724836.1:c.718C>T	XP_006724899.1:p.Pro240Ser
XM_006724837.1:c.703C>T	XP_006724900.1:p.Pro235Ser
XM_006724839.1:c.586C>T	XP_006724902.1:p.Pro196Ser
XM_006724841.2:c.457C>T	XP_006724904.1:p.Pro153Ser
XM_006724842.2:c.367C>T	XP_006724905.1:p.Pro123Ser
XM_011531189.1:c.505C>T	XP_011529491.1:p.Pro169Ser
XM_011531190.1:c.457C>T	XP_011529492.1:p.Pro153Ser
XM_011531191.1:c.388C>T	XP_011529493.1:p.Pro130Ser
XM_011531192.1:c.385C>T	XP_011529494.1:p.Pro129Ser
XR_938511.1:n.1012C>T
XM_006724841.4:c.457C>T	XP_006724904.1:p.Pro153Ser
XM_006724842.4:c.367C>T	XP_006724905.1:p.Pro123Ser
XM_011531191.2:c.388C>T	XP_011529493.1:p.Pro130Ser
XM_017029761.1:c.649C>T	XP_016885250.1:p.Pro217Ser
XM_017029762.1:c.628C>T	XP_016885251.1:p.Pro210Ser
XM_017029763.1:c.451C>T	XP_016885252.1:p.Pro151Ser
XM_017029764.1:c.385C>T	XP_016885253.1:p.Pro129Ser
XM_017029765.2:c.325C>T	XP_016885254.1:p.Pro109Ser
XM_024452431.1:c.622C>T	XP_024308199.1:p.Pro208Ser
NM_000116.5:c.664C>T MANE Select	NP_000107.1:p.Pro222Ser
NM_001303465.2:c.676C>T	NP_001290394.1:p.Pro226Ser
NM_181311.4:c.574C>T	NP_851828.1:p.Pro192Ser
NM_181312.4:c.622C>T	NP_851829.1:p.Pro208Ser
NM_181313.4:c.532C>T	NP_851830.1:p.Pro178Ser
NR_024048.3:n.985C>T