Canonical Allele Identifier: CA5278511
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs745483393
ExAC: 9:132576352 C / T
gnomAD v4: 9-129814073-C-T
MyVariant Identifiers: chr9:g.132576352C>T (hg19) chr9:g.129814073C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814073C>T , CM000671.2:g.129814073C>T GRCh38
NC_000009.11:g.132576352C>T , CM000671.1:g.132576352C>T GRCh37
NC_000009.10:g.131616173C>T NCBI36
NG_008049.1:g.15090G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.898G>A MANE Select ENSP00000345719.4:p.Val300Met
ENST00000651202.1:c.*166G>A ENSP00000498222.1:n.*166G>A
ENST00000351698.4:c.898G>A ENSP00000345719.4:p.Val300Met
ENST00000474192.1:n.482G>A
NM_000113.2:c.898G>A NP_000104.1:p.Val300Met
XR_929731.1:n.1225G>A
XR_929731.3:n.1093G>A
NM_000113.3:c.898G>A MANE Select NP_000104.1:p.Val300Met
Search 100 bp 5'
Search 100 bp 3'