Canonical Allele Identifier: CA14963662

Gene: TUBA8 PEX26

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18124539A>T , CM000684.2:g.18124539A>T	GRCh38
NC_000022.10:g.18607306A>T , CM000684.1:g.18607306A>T	GRCh37
NC_000022.9:g.16987306A>T	NCBI36
NG_023429.1:g.18854A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018943.3:c.375+235A>T (TUBA8) MANE Select	NP_061816.1:n.375+235A>T
ENST00000330423.8:c.375+235A>T (TUBA8) MANE Select	ENSP00000333326.3:n.375+235A>T
NM_001193414.1:c.177+235A>T (TUBA8)	NP_001180343.1:n.177+235A>T
NM_001193414.2:c.177+235A>T (TUBA8)	NP_001180343.1:n.177+235A>T
NM_018943.2:c.375+235A>T (TUBA8)	NP_061816.1:n.375+235A>T
ENST00000316027.10:c.177+235A>T (TUBA8)	ENSP00000318575.6:n.177+235A>T
ENST00000330423.7:c.375+235A>T (TUBA8)	ENSP00000333326.3:n.375+235A>T
ENST00000416740.1:c.447+235A>T (TUBA8)	ENSP00000412646.1:n.447+235A>T
ENST00000416740.2:c.177+235A>T (TUBA8)	ENSP00000412646.2:n.177+235A>T
ENST00000474897.5:c.*173+235A>T (PEX26)	ENSP00000434235.1:n.*173+235A>T
ENST00000474897.6:c.*265+235A>T	ENSP00000434235.2:n.*265+235A>T
ENST00000679481.1:n.744+235A>T (TUBA8)
ENST00000679963.1:c.177+235A>T (TUBA8)	ENSP00000505896.1:n.177+235A>T
ENST00000680175.1:c.375+235A>T (TUBA8)	ENSP00000505461.1:n.375+235A>T