Canonical Allele Identifier: CA2692045416
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813760-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813760T>G , CM000671.2:g.129813760T>G GRCh38
NC_000009.11:g.132576039T>G , CM000671.1:g.132576039T>G GRCh37
NC_000009.10:g.131615860T>G NCBI36
NG_008049.1:g.15403A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*212A>C MANE Select ENSP00000345719.4:n.*212A>C
ENST00000651202.1:c.*479A>C ENSP00000498222.1:n.*479A>C
ENST00000351698.4:c.*212A>C ENSP00000345719.4:n.*212A>C
ENST00000474192.1:n.795A>C
NM_000113.2:c.*212A>C NP_000104.1:n.*212A>C
XR_929731.3:n.1406A>C
NM_000113.3:c.*212A>C MANE Select NP_000104.1:n.*212A>C
Search 100 bp 5'
Search 100 bp 3'