Canonical Allele Identifier: CA1880972036
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030975197
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814249C>T , CM000671.2:g.129814249C>T GRCh38
NC_000009.11:g.132576528C>T , CM000671.1:g.132576528C>T GRCh37
NC_000009.10:g.131616349C>T NCBI36
NG_008049.1:g.14914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-27G>A MANE Select ENSP00000345719.4:n.749-27G>A
ENST00000651202.1:c.*17-27G>A ENSP00000498222.1:n.*17-27G>A
ENST00000351698.4:c.749-27G>A ENSP00000345719.4:n.749-27G>A
ENST00000474192.1:n.333-27G>A
NM_000113.2:c.749-27G>A NP_000104.1:n.749-27G>A
XR_929731.1:n.1076-27G>A
XR_929731.3:n.944-27G>A
NM_000113.3:c.749-27G>A MANE Select NP_000104.1:n.749-27G>A
Search 100 bp 5'
Search 100 bp 3'