Canonical Allele Identifier: CA5278547
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs757630651
ExAC: 9:132576550 C / G
gnomAD v2: 9-132576550-C-G
gnomAD v3: 9-129814271-C-G
gnomAD v4: 9-129814271-C-G
MyVariant Identifiers: chr9:g.132576550C>G (hg19) chr9:g.129814271C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814271C>G , CM000671.2:g.129814271C>G GRCh38
NC_000009.11:g.132576550C>G , CM000671.1:g.132576550C>G GRCh37
NC_000009.10:g.131616371C>G NCBI36
NG_008049.1:g.14892G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-49G>C MANE Select ENSP00000345719.4:n.749-49G>C
ENST00000651202.1:c.*17-49G>C ENSP00000498222.1:n.*17-49G>C
ENST00000351698.4:c.749-49G>C ENSP00000345719.4:n.749-49G>C
ENST00000474192.1:n.333-49G>C
NM_000113.2:c.749-49G>C NP_000104.1:n.749-49G>C
XR_929731.1:n.1076-49G>C
XR_929731.3:n.944-49G>C
NM_000113.3:c.749-49G>C MANE Select NP_000104.1:n.749-49G>C
Search 100 bp 5'
Search 100 bp 3'