Canonical Allele Identifier: CA173763

Gene: TUBA8 PEX26

Linked Data

• ClinVar Variation Id: 160170
• ClinVar RCV Id: RCV000147825 ; RCV000892802 ; RCV003927445
• dbSNP Id: rs145407514
• ExAC: 22:18613633 G / A
• gnomAD v2: 22-18613633-G-A
• gnomAD v3: 22-18130866-G-A
• gnomAD v4: 22-18130866-G-A
• MyVariant Identifiers: chr22:g.18613633G>A (hg19) ; chr22:g.18130866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18130866G>A , CM000684.2:g.18130866G>A	GRCh38
NC_000022.10:g.18613633G>A , CM000684.1:g.18613633G>A	GRCh37
NC_000022.9:g.16993633G>A	NCBI36
NG_023429.1:g.25181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330423.8:c.1080G>A (TUBA8) MANE Select	ENSP00000333326.3:p.Pro360=
ENST00000416740.2:c.882G>A (TUBA8)	ENSP00000412646.2:p.Pro294=
ENST00000474897.6:c.*970G>A	ENSP00000434235.2:n.*970G>A
ENST00000679481.1:n.1449G>A (TUBA8)
ENST00000679963.1:c.858+3832G>A (TUBA8)	ENSP00000505896.1:n.858+3832G>A
ENST00000680175.1:c.1080G>A (TUBA8)	ENSP00000505461.1:p.Pro360=
ENST00000316027.10:c.882G>A (TUBA8)	ENSP00000318575.6:p.Pro294=
ENST00000330423.7:c.1080G>A (TUBA8)	ENSP00000333326.3:p.Pro360=
ENST00000416740.1:c.1152G>A (TUBA8)	ENSP00000412646.1:p.Pro384=
ENST00000474897.5:c.*878G>A (PEX26)	ENSP00000434235.1:n.*878G>A
ENST00000608634.1:c.352G>A (TUBA8)
NM_001193414.1:c.882G>A (TUBA8)	NP_001180343.1:p.Pro294=
NM_018943.2:c.1080G>A (TUBA8)	NP_061816.1:p.Pro360=
NM_018943.3:c.1080G>A (TUBA8) MANE Select	NP_061816.1:p.Pro360=
NM_001193414.2:c.882G>A (TUBA8)	NP_001180343.1:p.Pro294=