Canonical Allele Identifier: CA10093799

Gene: TUBA8 PEX26

Linked Data

• ClinVar Variation Id: 425280
• ClinVar RCV Id: RCV000488379 ; RCV000503144 ; RCV000765606 ; RCV002475957
• dbSNP Id: rs151102020
• ExAC: 22:18609712 G / A
• gnomAD v2: 22-18609712-G-A
• gnomAD v3: 22-18126945-G-A
• gnomAD v4: 22-18126945-G-A
• MyVariant Identifiers: chr22:g.18609712G>A (hg19) ; chr22:g.18126945G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18126945G>A , CM000684.2:g.18126945G>A	GRCh38
NC_000022.10:g.18609712G>A , CM000684.1:g.18609712G>A	GRCh37
NC_000022.9:g.16989712G>A	NCBI36
NG_023429.1:g.21260G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330423.8:c.967G>A (TUBA8) MANE Select	ENSP00000333326.3:p.Val323Met
ENST00000416740.2:c.769G>A (TUBA8)	ENSP00000412646.2:p.Val257Met
ENST00000474897.6:c.*857G>A	ENSP00000434235.2:n.*857G>A
ENST00000679481.1:n.1336G>A (TUBA8)
ENST00000679963.1:c.769G>A (TUBA8)	ENSP00000505896.1:p.Val257Met
ENST00000680175.1:c.967G>A (TUBA8)	ENSP00000505461.1:p.Val323Met
ENST00000316027.10:c.769G>A (TUBA8)	ENSP00000318575.6:p.Val257Met
ENST00000330423.7:c.967G>A (TUBA8)	ENSP00000333326.3:p.Val323Met
ENST00000416740.1:c.1039G>A (TUBA8)	ENSP00000412646.1:p.Val347Met
ENST00000474897.5:c.*765G>A (PEX26)	ENSP00000434235.1:n.*765G>A
ENST00000608634.1:c.239G>A (TUBA8)
NM_001193414.1:c.769G>A (TUBA8)	NP_001180343.1:p.Val257Met
NM_018943.2:c.967G>A (TUBA8)	NP_061816.1:p.Val323Met
NM_018943.3:c.967G>A (TUBA8) MANE Select	NP_061816.1:p.Val323Met
NM_001193414.2:c.769G>A (TUBA8)	NP_001180343.1:p.Val257Met