Canonical Allele Identifier: CA415185135

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153648568C>G (hg19) ; chrX:g.154420229C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1474C>G
ENST00000698317.1:n.2090C>G
ENST00000698318.1:n.1873C>G
ENST00000698319.1:n.1236C>G
ENST00000698320.1:n.1124C>G
ENST00000470127.2:n.1137C>G
ENST00000475699.6:c.628C>G	ENSP00000419854.3:p.Pro210Ala
ENST00000483674.3:n.546C>G
ENST00000601016.6:c.664C>G MANE Select	ENSP00000469981.1:p.Pro222Ala
ENST00000612012.5:c.622C>G	ENSP00000482070.2:p.Pro208Ala
ENST00000612460.5:c.574C>G	ENSP00000481037.1:p.Pro192Ala
ENST00000614595.2:n.2011C>G
ENST00000615658.5:n.1253C>G
ENST00000616020.5:c.676C>G	ENSP00000483636.2:p.Pro226Ala
ENST00000617701.5:c.*677C>G	ENSP00000481645.1:n.*677C>G
ENST00000652354.1:c.346C>G	ENSP00000498734.1:p.Pro116Ala
ENST00000652358.1:c.457C>G	ENSP00000498464.1:p.Pro153Ala
ENST00000652390.1:c.583C>G	ENSP00000498858.1:p.Pro195Ala
ENST00000652476.1:n.1330C>G
ENST00000652644.1:c.277C>G	ENSP00000498496.1:p.Pro93Ala
ENST00000652682.1:c.721C>G	ENSP00000498288.1:p.Pro241Ala
ENST00000652685.1:n.1017C>G
ENST00000369776.8:c.574C>G	ENSP00000358791.4:p.Pro192Ala
ENST00000426231.5:c.661C>G
ENST00000475699.5:c.622C>G	ENSP00000419854.2:p.Pro208Ala
ENST00000494912.5:n.1353C>G
ENST00000498029.1:n.122C>G
ENST00000601016.5:c.664C>G	ENSP00000469981.1:p.Pro222Ala
ENST00000612460.4:c.574C>G	ENSP00000481037.1:p.Pro192Ala
ENST00000613002.4:c.532C>G	ENSP00000478154.1:p.Pro178Ala
ENST00000615986.4:c.*392C>G	ENSP00000480133.1:n.*392C>G
NM_000116.4:c.664C>G	NP_000107.1:p.Pro222Ala
NM_001303465.1:c.676C>G	NP_001290394.1:p.Pro226Ala
NM_181311.3:c.574C>G	NP_851828.1:p.Pro192Ala
NM_181312.3:c.622C>G	NP_851829.1:p.Pro208Ala
NM_181313.3:c.532C>G	NP_851830.1:p.Pro178Ala
NR_024048.2:n.1006C>G
XM_006724836.1:c.718C>G	XP_006724899.1:p.Pro240Ala
XM_006724837.1:c.703C>G	XP_006724900.1:p.Pro235Ala
XM_006724839.1:c.586C>G	XP_006724902.1:p.Pro196Ala
XM_006724841.2:c.457C>G	XP_006724904.1:p.Pro153Ala
XM_006724842.2:c.367C>G	XP_006724905.1:p.Pro123Ala
XM_011531189.1:c.505C>G	XP_011529491.1:p.Pro169Ala
XM_011531190.1:c.457C>G	XP_011529492.1:p.Pro153Ala
XM_011531191.1:c.388C>G	XP_011529493.1:p.Pro130Ala
XM_011531192.1:c.385C>G	XP_011529494.1:p.Pro129Ala
XR_938511.1:n.1012C>G
XM_006724841.4:c.457C>G	XP_006724904.1:p.Pro153Ala
XM_006724842.4:c.367C>G	XP_006724905.1:p.Pro123Ala
XM_011531191.2:c.388C>G	XP_011529493.1:p.Pro130Ala
XM_017029761.1:c.649C>G	XP_016885250.1:p.Pro217Ala
XM_017029762.1:c.628C>G	XP_016885251.1:p.Pro210Ala
XM_017029763.1:c.451C>G	XP_016885252.1:p.Pro151Ala
XM_017029764.1:c.385C>G	XP_016885253.1:p.Pro129Ala
XM_017029765.2:c.325C>G	XP_016885254.1:p.Pro109Ala
XM_024452431.1:c.622C>G	XP_024308199.1:p.Pro208Ala
NM_000116.5:c.664C>G MANE Select	NP_000107.1:p.Pro222Ala
NM_001303465.2:c.676C>G	NP_001290394.1:p.Pro226Ala
NM_181311.4:c.574C>G	NP_851828.1:p.Pro192Ala
NM_181312.4:c.622C>G	NP_851829.1:p.Pro208Ala
NM_181313.4:c.532C>G	NP_851830.1:p.Pro178Ala
NR_024048.3:n.985C>G