Canonical Allele Identifier: CA200533569

Gene: TOR1A

Linked Data

• dbSNP Id: rs982877713
• gnomAD v2: 9-132575979-A-G
• gnomAD v3: 9-129813700-A-G
• gnomAD v4: 9-129813700-A-G
• MyVariant Identifiers: chr9:g.132575979A>G (hg19) ; chr9:g.129813700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813700A>G , CM000671.2:g.129813700A>G	GRCh38
NC_000009.11:g.132575979A>G , CM000671.1:g.132575979A>G	GRCh37
NC_000009.10:g.131615800A>G	NCBI36
NG_008049.1:g.15463T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*272T>C MANE Select	ENSP00000345719.4:n.*272T>C
ENST00000651202.1:c.*539T>C	ENSP00000498222.1:n.*539T>C
ENST00000351698.4:c.*272T>C	ENSP00000345719.4:n.*272T>C
ENST00000474192.1:n.855T>C
NM_000113.2:c.*272T>C	NP_000104.1:n.*272T>C
XR_929731.3:n.1466T>C
NM_000113.3:c.*272T>C MANE Select	NP_000104.1:n.*272T>C