Canonical Allele Identifier: CA512914661

Gene: TUBA8 PEX26

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18124193T>C , CM000684.2:g.18124193T>C	GRCh38
NC_000022.10:g.18606960T>C , CM000684.1:g.18606960T>C	GRCh37
NC_000022.9:g.16986960T>C	NCBI36
NG_023429.1:g.18508T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018943.3:c.264T>C (TUBA8) MANE Select	NP_061816.1:p.His88=
ENST00000330423.8:c.264T>C (TUBA8) MANE Select	ENSP00000333326.3:p.His88=
NM_001193414.1:c.66T>C (TUBA8)	NP_001180343.1:p.His22=
NM_001193414.2:c.66T>C (TUBA8)	NP_001180343.1:p.His22=
NM_018943.2:c.264T>C (TUBA8)	NP_061816.1:p.His88=
ENST00000316027.10:c.66T>C (TUBA8)	ENSP00000318575.6:p.His22=
ENST00000330423.7:c.264T>C (TUBA8)	ENSP00000333326.3:p.His88=
ENST00000416740.1:c.336T>C (TUBA8)	ENSP00000412646.1:p.His112=
ENST00000416740.2:c.66T>C (TUBA8)	ENSP00000412646.2:p.His22=
ENST00000426208.5:c.66T>C (TUBA8)	ENSP00000407624.1:p.His22=
ENST00000474897.5:c.*62T>C (PEX26)	ENSP00000434235.1:n.*62T>C
ENST00000474897.6:c.*154T>C	ENSP00000434235.2:n.*154T>C
ENST00000679481.1:n.633T>C (TUBA8)
ENST00000679963.1:c.66T>C (TUBA8)	ENSP00000505896.1:p.His22=
ENST00000680175.1:c.264T>C (TUBA8)	ENSP00000505461.1:p.His88=