Canonical Allele Identifier: CA590684989

Gene: TOR1A

Linked Data

• dbSNP Id: rs145607121
• gnomAD v2: 9-132575997-C-G
• gnomAD v3: 9-129813718-C-G
• gnomAD v4: 9-129813718-C-G
• MyVariant Identifiers: chr9:g.132575997C>G (hg19) ; chr9:g.129813718C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813718C>G , CM000671.2:g.129813718C>G	GRCh38
NC_000009.11:g.132575997C>G , CM000671.1:g.132575997C>G	GRCh37
NC_000009.10:g.131615818C>G	NCBI36
NG_008049.1:g.15445G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*254G>C MANE Select	ENSP00000345719.4:n.*254G>C
ENST00000651202.1:c.*521G>C	ENSP00000498222.1:n.*521G>C
ENST00000351698.4:c.*254G>C	ENSP00000345719.4:n.*254G>C
ENST00000474192.1:n.837G>C
NM_000113.2:c.*254G>C	NP_000104.1:n.*254G>C
XR_929731.3:n.1448G>C
NM_000113.3:c.*254G>C MANE Select	NP_000104.1:n.*254G>C