Canonical Allele Identifier: CA565758184

Gene: ATXN1

Linked Data

• dbSNP Id: rs1360727403
• gnomAD v2: 6-16742092-A-G
• gnomAD v3: 6-16741861-A-G
• gnomAD v4: 6-16741861-A-G
• MyVariant Identifiers: chr6:g.16742092A>G (hg19) ; chr6:g.16741861A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.16741861A>G , CM000668.2:g.16741861A>G	GRCh38
NC_000006.11:g.16742092A>G , CM000668.1:g.16742092A>G	GRCh37
NC_000006.10:g.16850071A>G	NCBI36
NG_011571.1:g.24630T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000436367.6:c.-615+11372T>C MANE Select	ENSP00000416360.1:n.-615+11372T>C
ENST00000643828.1:n.344+11372T>C
ENST00000646259.1:n.188+11372T>C
ENST00000675689.1:n.150+11372T>C
ENST00000676138.1:n.162-1943T>C
ENST00000244769.8:c.-615+11372T>C	ENSP00000244769.3:n.-615+11372T>C
ENST00000436367.5:c.-615+11372T>C	ENSP00000416360.1:n.-615+11372T>C
ENST00000467008.5:n.295-1943T>C
ENST00000473388.6:n.278+11372T>C
ENST00000483591.6:n.117+8115T>C
ENST00000483954.1:n.159+19437T>C
ENST00000492857.1:n.331-1943T>C
ENST00000495178.1:n.76+11372T>C
ENST00000498374.1:n.195-1943T>C
NM_000332.3:c.-615+11372T>C	NP_000323.2:n.-615+11372T>C
NM_001128164.1:c.-615+11372T>C	NP_001121636.1:n.-615+11372T>C
NM_001357857.1:c.-644+11372T>C	NP_001344786.1:n.-644+11372T>C
NR_152111.1:n.309-1943T>C
NR_152112.1:n.194-1943T>C
NR_152113.1:n.191-1943T>C
NR_152114.1:n.240-1943T>C
NM_001357857.2:c.-644+11372T>C	NP_001344786.1:n.-644+11372T>C
NR_152111.2:n.279-1943T>C
NR_152112.2:n.164-1943T>C
NR_152113.2:n.244-1943T>C
NR_152114.2:n.293-1943T>C
NM_001128164.2:c.-615+11372T>C MANE Select	NP_001121636.1:n.-615+11372T>C
NR_152111.3:n.279-1943T>C
NR_152112.3:n.164-1943T>C
NR_152113.3:n.244-1943T>C
NR_152114.3:n.293-1943T>C
NM_000332.4:c.-615+11372T>C	NP_000323.2:n.-615+11372T>C