Canonical Allele Identifier: CA415185498

Gene: TAFAZZIN

Linked Data

• MyVariant Identifiers: chrX:g.153649063A>C (hg19) ; chrX:g.154420724A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420724A>C , CM000685.2:g.154420724A>C	GRCh38
NC_000023.10:g.153649063A>C , CM000685.1:g.153649063A>C	GRCh37
NC_000023.9:g.153302257A>C	NCBI36
NG_009634.1:g.14187A>C
NG_009634.2:g.14190A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1576A>C
ENST00000698317.1:n.2192A>C
ENST00000698318.1:n.1975A>C
ENST00000698319.1:n.1338A>C
ENST00000698320.1:n.1226A>C
ENST00000470127.2:n.1239A>C
ENST00000475699.6:c.730A>C	ENSP00000419854.3:p.Asn244His
ENST00000483674.3:n.648A>C
ENST00000601016.6:c.766A>C MANE Select	ENSP00000469981.1:p.Asn256His
ENST00000612012.5:c.724A>C	ENSP00000482070.2:p.Asn242His
ENST00000612460.5:c.676A>C	ENSP00000481037.1:p.Asn226His
ENST00000614595.2:n.2113A>C
ENST00000615658.5:n.1355A>C
ENST00000616020.5:c.778A>C	ENSP00000483636.2:p.Asn260His
ENST00000617701.5:c.*779A>C	ENSP00000481645.1:n.*779A>C
ENST00000651139.1:c.-18A>C	ENSP00000498957.1:n.-18A>C
ENST00000652354.1:c.448A>C	ENSP00000498734.1:p.Asn150His
ENST00000652358.1:c.559A>C	ENSP00000498464.1:p.Asn187His
ENST00000652390.1:c.685A>C	ENSP00000498858.1:p.Asn229His
ENST00000652476.1:n.1432A>C
ENST00000652644.1:c.379A>C	ENSP00000498496.1:p.Asn127His
ENST00000652682.1:c.823A>C	ENSP00000498288.1:p.Asn275His
ENST00000652685.1:n.1119A>C
ENST00000369776.8:c.676A>C	ENSP00000358791.4:p.Asn226His
ENST00000426231.5:c.763A>C
ENST00000475699.5:c.724A>C	ENSP00000419854.2:p.Asn242His
ENST00000494912.5:n.1455A>C
ENST00000498029.1:n.224A>C
ENST00000601016.5:c.766A>C	ENSP00000469981.1:p.Asn256His
ENST00000612460.4:c.676A>C	ENSP00000481037.1:p.Asn226His
ENST00000613002.4:c.634A>C	ENSP00000478154.1:p.Asn212His
ENST00000615986.4:c.*494A>C	ENSP00000480133.1:n.*494A>C
NM_000116.4:c.766A>C	NP_000107.1:p.Asn256His
NM_001303465.1:c.778A>C	NP_001290394.1:p.Asn260His
NM_181311.3:c.676A>C	NP_851828.1:p.Asn226His
NM_181312.3:c.724A>C	NP_851829.1:p.Asn242His
NM_181313.3:c.634A>C	NP_851830.1:p.Asn212His
NR_024048.2:n.1108A>C
XM_006724836.1:c.820A>C	XP_006724899.1:p.Asn274His
XM_006724837.1:c.805A>C	XP_006724900.1:p.Asn269His
XM_006724839.1:c.688A>C	XP_006724902.1:p.Asn230His
XM_006724841.2:c.559A>C	XP_006724904.1:p.Asn187His
XM_006724842.2:c.469A>C	XP_006724905.1:p.Asn157His
XM_011531189.1:c.607A>C	XP_011529491.1:p.Asn203His
XM_011531190.1:c.559A>C	XP_011529492.1:p.Asn187His
XM_011531191.1:c.490A>C	XP_011529493.1:p.Asn164His
XM_011531192.1:c.487A>C	XP_011529494.1:p.Asn163His
XR_938511.1:n.1114A>C
XM_006724841.4:c.559A>C	XP_006724904.1:p.Asn187His
XM_006724842.4:c.469A>C	XP_006724905.1:p.Asn157His
XM_011531191.2:c.490A>C	XP_011529493.1:p.Asn164His
XM_017029761.1:c.751A>C	XP_016885250.1:p.Asn251His
XM_017029762.1:c.730A>C	XP_016885251.1:p.Asn244His
XM_017029763.1:c.553A>C	XP_016885252.1:p.Asn185His
XM_017029764.1:c.487A>C	XP_016885253.1:p.Asn163His
XM_017029765.2:c.427A>C	XP_016885254.1:p.Asn143His
XM_024452431.1:c.724A>C	XP_024308199.1:p.Asn242His
NM_000116.5:c.766A>C MANE Select	NP_000107.1:p.Asn256His
NM_001303465.2:c.778A>C	NP_001290394.1:p.Asn260His
NM_181311.4:c.676A>C	NP_851828.1:p.Asn226His
NM_181312.4:c.724A>C	NP_851829.1:p.Asn242His
NM_181313.4:c.634A>C	NP_851830.1:p.Asn212His
NR_024048.3:n.1087A>C