Canonical Allele Identifier: CA5278639
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs147749415
ExAC: 9:132581169 C / T
gnomAD v2: 9-132581169-C-T
gnomAD v3: 9-129818890-C-T
gnomAD v4: 9-129818890-C-T
MyVariant Identifiers: chr9:g.132581169C>T (hg19) chr9:g.129818890C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818890C>T , CM000671.2:g.129818890C>T GRCh38
NC_000009.11:g.132581169C>T , CM000671.1:g.132581169C>T GRCh37
NC_000009.10:g.131620990C>T NCBI36
NG_008049.1:g.10273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.475G>A MANE Select ENSP00000345719.4:p.Val159Met
ENST00000651202.1:c.571G>A ENSP00000498222.1:p.Val191Met
ENST00000351698.4:c.475G>A ENSP00000345719.4:p.Val159Met
ENST00000473604.2:n.585G>A
NM_000113.2:c.475G>A NP_000104.1:p.Val159Met
XR_929731.1:n.635G>A
XR_929731.3:n.503G>A
NM_000113.3:c.475G>A MANE Select NP_000104.1:p.Val159Met
Search 100 bp 5'
Search 100 bp 3'