Canonical Allele Identifier: CA375197783
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814128-G-C
MyVariant Identifiers: chr9:g.132576407G>C (hg19) chr9:g.129814128G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814128G>C , CM000671.2:g.129814128G>C GRCh38
NC_000009.11:g.132576407G>C , CM000671.1:g.132576407G>C GRCh37
NC_000009.10:g.131616228G>C NCBI36
NG_008049.1:g.15035C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.843C>G MANE Select ENSP00000345719.4:p.Ile281Met
ENST00000651202.1:c.*111C>G ENSP00000498222.1:n.*111C>G
ENST00000351698.4:c.843C>G ENSP00000345719.4:p.Ile281Met
ENST00000474192.1:n.427C>G
NM_000113.2:c.843C>G NP_000104.1:p.Ile281Met
XR_929731.1:n.1170C>G
XR_929731.3:n.1038C>G
NM_000113.3:c.843C>G MANE Select NP_000104.1:p.Ile281Met
Search 100 bp 5'
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