Canonical Allele Identifier: CA202384

Gene: ATXN10

Linked Data

• ClinVar Variation Id: 196455
• ClinVar RCV Id: RCV000177273 ; RCV002492773 ; RCV003436971
• dbSNP Id: rs61733598
• ExAC: 22:46088888 G / A
• gnomAD v2: 22-46088888-G-A
• gnomAD v3: 22-45693008-G-A
• gnomAD v4: 22-45693008-G-A
• MyVariant Identifiers: chr22:g.46088888G>A (hg19) ; chr22:g.45693008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.45693008G>A , CM000684.2:g.45693008G>A	GRCh38
NC_000022.10:g.46088888G>A , CM000684.1:g.46088888G>A	GRCh37
NC_000022.9:g.44467552G>A	NCBI36
NG_016212.1:g.26211G>A
NG_016212.2:g.26211G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252934.10:c.321G>A MANE Select	ENSP00000252934.4:p.Thr107=
ENST00000640901.1:c.321G>A	ENSP00000491659.1:p.Thr107=
ENST00000252934.9:c.321G>A	ENSP00000252934.4:p.Thr107=
ENST00000381061.8:c.129G>A	ENSP00000370449.4:p.Thr43=
ENST00000470722.1:n.280G>A
ENST00000498009.5:n.495G>A
NM_001167621.1:c.129G>A	NP_001161093.1:p.Thr43=
NM_013236.3:c.321G>A	NP_037368.1:p.Thr107=
NM_013236.4:c.321G>A MANE Select	NP_037368.1:p.Thr107=
NM_001167621.2:c.129G>A	NP_001161093.1:p.Thr43=