Canonical Allele Identifier: CA12289781

Gene: ATXN1

Linked Data

• dbSNP Id: rs697739
• gnomAD v2: 6-16742033-C-T
• gnomAD v3: 6-16741802-C-T
• gnomAD v4: 6-16741802-C-T
• MyVariant Identifiers: chr6:g.16742033C>T (hg19) ; chr6:g.16741802C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16741802C>T , CM000668.2:g.16741802C>T	GRCh38
NC_000006.11:g.16742033C>T , CM000668.1:g.16742033C>T	GRCh37
NC_000006.10:g.16850012C>T	NCBI36
NG_011571.1:g.24689G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-615+11431G>A MANE Select	ENSP00000416360.1:n.-615+11431G>A
ENST00000643828.1:n.344+11431G>A
ENST00000646259.1:n.188+11431G>A
ENST00000675689.1:n.150+11431G>A
ENST00000676138.1:n.162-1884G>A
ENST00000244769.8:c.-615+11431G>A	ENSP00000244769.3:n.-615+11431G>A
ENST00000436367.5:c.-615+11431G>A	ENSP00000416360.1:n.-615+11431G>A
ENST00000467008.5:n.295-1884G>A
ENST00000473388.6:n.278+11431G>A
ENST00000483591.6:n.117+8174G>A
ENST00000483954.1:n.159+19496G>A
ENST00000492857.1:n.331-1884G>A
ENST00000495178.1:n.76+11431G>A
ENST00000498374.1:n.195-1884G>A
NM_000332.3:c.-615+11431G>A	NP_000323.2:n.-615+11431G>A
NM_001128164.1:c.-615+11431G>A	NP_001121636.1:n.-615+11431G>A
NM_001357857.1:c.-644+11431G>A	NP_001344786.1:n.-644+11431G>A
NR_152111.1:n.309-1884G>A
NR_152112.1:n.194-1884G>A
NR_152113.1:n.191-1884G>A
NR_152114.1:n.240-1884G>A
NM_001357857.2:c.-644+11431G>A	NP_001344786.1:n.-644+11431G>A
NR_152111.2:n.279-1884G>A
NR_152112.2:n.164-1884G>A
NR_152113.2:n.244-1884G>A
NR_152114.2:n.293-1884G>A
NM_001128164.2:c.-615+11431G>A MANE Select	NP_001121636.1:n.-615+11431G>A
NR_152111.3:n.279-1884G>A
NR_152112.3:n.164-1884G>A
NR_152113.3:n.244-1884G>A
NR_152114.3:n.293-1884G>A
NM_000332.4:c.-615+11431G>A	NP_000323.2:n.-615+11431G>A