Canonical Allele Identifier: CA375199061
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1337317820
gnomAD v2: 9-132581040-T-C
gnomAD v4: 9-129818761-T-C
MyVariant Identifiers: chr9:g.132581040T>C (hg19) chr9:g.129818761T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818761T>C , CM000671.2:g.129818761T>C GRCh38
NC_000009.11:g.132581040T>C , CM000671.1:g.132581040T>C GRCh37
NC_000009.10:g.131620861T>C NCBI36
NG_008049.1:g.10402A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.604A>G MANE Select ENSP00000345719.4:p.Met202Val
ENST00000651202.1:c.700A>G ENSP00000498222.1:p.Met234Val
ENST00000351698.4:c.604A>G ENSP00000345719.4:p.Met202Val
ENST00000473604.2:n.714A>G
ENST00000474192.1:n.21A>G
NM_000113.2:c.604A>G NP_000104.1:p.Met202Val
XR_929731.1:n.764A>G
XR_929731.3:n.632A>G
NM_000113.3:c.604A>G MANE Select NP_000104.1:p.Met202Val
Search 100 bp 5'
Search 100 bp 3'