Canonical Allele Identifier: CA415184557

Gene: TAFAZZIN

Linked Data

• ClinVar Variation Id: 2973307
• ClinVar RCV Id: RCV003830401
• dbSNP Id: rs2068586117
• MyVariant Identifiers: chrX:g.153648451G>A (hg19) ; chrX:g.154420112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420112G>A , CM000685.2:g.154420112G>A	GRCh38
NC_000023.10:g.153648451G>A , CM000685.1:g.153648451G>A	GRCh37
NC_000023.9:g.153301645G>A	NCBI36
NG_009634.1:g.13575G>A
NG_009634.2:g.13578G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698234.1:n.1456+18G>A
ENST00000698317.1:n.2072+18G>A
ENST00000698318.1:n.1855+18G>A
ENST00000698319.1:n.1218+18G>A
ENST00000698320.1:n.1106+18G>A
ENST00000470127.2:n.1119+18G>A
ENST00000475699.6:c.610+18G>A	ENSP00000419854.3:n.610+18G>A
ENST00000483674.3:n.528+18G>A
ENST00000601016.6:c.646+18G>A MANE Select	ENSP00000469981.1:n.646+18G>A
ENST00000612012.5:c.604+18G>A	ENSP00000482070.2:n.604+18G>A
ENST00000612460.5:c.556+18G>A	ENSP00000481037.1:n.556+18G>A
ENST00000614595.2:n.1993+18G>A
ENST00000615658.5:n.1235+18G>A
ENST00000616020.5:c.658+18G>A	ENSP00000483636.2:n.658+18G>A
ENST00000617701.5:c.*659+18G>A	ENSP00000481645.1:n.*659+18G>A
ENST00000652354.1:c.328+18G>A	ENSP00000498734.1:n.328+18G>A
ENST00000652358.1:c.439+18G>A	ENSP00000498464.1:n.439+18G>A
ENST00000652390.1:c.565+18G>A	ENSP00000498858.1:n.565+18G>A
ENST00000652476.1:n.1312+18G>A
ENST00000652644.1:c.259+18G>A	ENSP00000498496.1:n.259+18G>A
ENST00000652682.1:c.703+18G>A	ENSP00000498288.1:n.703+18G>A
ENST00000652685.1:n.999+18G>A
ENST00000369776.8:c.457G>A	ENSP00000358791.4:p.Asp153Asn
ENST00000426231.5:c.643+18G>A
ENST00000470127.1:n.243G>A
ENST00000475699.5:c.604+18G>A	ENSP00000419854.2:n.604+18G>A
ENST00000494912.5:n.1335+18G>A
ENST00000498029.1:n.104+18G>A
ENST00000601016.5:c.646+18G>A	ENSP00000469981.1:n.646+18G>A
ENST00000612460.4:c.556+18G>A	ENSP00000481037.1:n.556+18G>A
ENST00000613002.4:c.514+18G>A	ENSP00000478154.1:n.514+18G>A
ENST00000615986.4:c.*374+18G>A	ENSP00000480133.1:n.*374+18G>A
NM_000116.4:c.646+18G>A	NP_000107.1:n.646+18G>A
NM_001303465.1:c.658+18G>A	NP_001290394.1:n.658+18G>A
NM_181311.3:c.556+18G>A	NP_851828.1:n.556+18G>A
NM_181312.3:c.604+18G>A	NP_851829.1:n.604+18G>A
NM_181313.3:c.514+18G>A	NP_851830.1:n.514+18G>A
NR_024048.2:n.988+18G>A
XM_006724836.1:c.700+18G>A	XP_006724899.1:n.700+18G>A
XM_006724837.1:c.586G>A	XP_006724900.1:p.Asp196Asn
XM_006724839.1:c.568+18G>A	XP_006724902.1:n.568+18G>A
XM_006724841.2:c.439+18G>A	XP_006724904.1:n.439+18G>A
XM_006724842.2:c.349+18G>A	XP_006724905.1:n.349+18G>A
XM_011531189.1:c.487+18G>A	XP_011529491.1:n.487+18G>A
XM_011531190.1:c.439+18G>A	XP_011529492.1:n.439+18G>A
XM_011531191.1:c.370+18G>A	XP_011529493.1:n.370+18G>A
XM_011531192.1:c.367+18G>A	XP_011529494.1:n.367+18G>A
XR_938511.1:n.994+18G>A
XM_006724841.4:c.439+18G>A	XP_006724904.1:n.439+18G>A
XM_006724842.4:c.349+18G>A	XP_006724905.1:n.349+18G>A
XM_011531191.2:c.370+18G>A	XP_011529493.1:n.370+18G>A
XM_017029761.1:c.532G>A	XP_016885250.1:p.Asp178Asn
XM_017029762.1:c.610+18G>A	XP_016885251.1:n.610+18G>A
XM_017029763.1:c.433+18G>A	XP_016885252.1:n.433+18G>A
XM_017029764.1:c.367+18G>A	XP_016885253.1:n.367+18G>A
XM_017029765.2:c.307+18G>A	XP_016885254.1:n.307+18G>A
XM_024452431.1:c.505G>A	XP_024308199.1:p.Asp169Asn
NM_000116.5:c.646+18G>A MANE Select	NP_000107.1:n.646+18G>A
NM_001303465.2:c.658+18G>A	NP_001290394.1:n.658+18G>A
NM_181311.4:c.556+18G>A	NP_851828.1:n.556+18G>A
NM_181312.4:c.604+18G>A	NP_851829.1:n.604+18G>A
NM_181313.4:c.514+18G>A	NP_851830.1:n.514+18G>A
NR_024048.3:n.967+18G>A