Canonical Allele Identifier: CA375197658
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576348G>T (hg19) chr9:g.129814069G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814069G>T , CM000671.2:g.129814069G>T GRCh38
NC_000009.11:g.132576348G>T , CM000671.1:g.132576348G>T GRCh37
NC_000009.10:g.131616169G>T NCBI36
NG_008049.1:g.15094C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.902C>A MANE Select ENSP00000345719.4:p.Ala301Asp
ENST00000651202.1:c.*170C>A ENSP00000498222.1:n.*170C>A
ENST00000351698.4:c.902C>A ENSP00000345719.4:p.Ala301Asp
ENST00000474192.1:n.486C>A
NM_000113.2:c.902C>A NP_000104.1:p.Ala301Asp
XR_929731.1:n.1229C>A
XR_929731.3:n.1097C>A
NM_000113.3:c.902C>A MANE Select NP_000104.1:p.Ala301Asp
Search 100 bp 5'
Search 100 bp 3'