Canonical Allele Identifier: CA375199349
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs147749415
gnomAD v2: 9-132581169-C-G
MyVariant Identifiers: chr9:g.132581169C>G (hg19) chr9:g.129818890C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.475G>C MANE Select ENSP00000345719.4:p.Val159Leu
ENST00000651202.1:c.571G>C ENSP00000498222.1:p.Val191Leu
ENST00000351698.4:c.475G>C ENSP00000345719.4:p.Val159Leu
ENST00000473604.2:n.585G>C
NM_000113.2:c.475G>C NP_000104.1:p.Val159Leu
XR_929731.1:n.635G>C
XR_929731.3:n.503G>C
NM_000113.3:c.475G>C MANE Select NP_000104.1:p.Val159Leu
Search 100 bp 5'
Search 100 bp 3'