Canonical Allele Identifier: CA375197454
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1397203265
gnomAD v3: 9-129814023-A-T
gnomAD v4: 9-129814023-A-T
MyVariant Identifiers: chr9:g.132576302A>T (hg19) chr9:g.129814023A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814023A>T , CM000671.2:g.129814023A>T GRCh38
NC_000009.11:g.132576302A>T , CM000671.1:g.132576302A>T GRCh37
NC_000009.10:g.131616123A>T NCBI36
NG_008049.1:g.15140T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.948T>A MANE Select ENSP00000345719.4:p.Asp316Glu
ENST00000651202.1:c.*216T>A ENSP00000498222.1:n.*216T>A
ENST00000351698.4:c.948T>A ENSP00000345719.4:p.Asp316Glu
ENST00000474192.1:n.532T>A
NM_000113.2:c.948T>A NP_000104.1:p.Asp316Glu
XR_929731.3:n.1143T>A
NM_000113.3:c.948T>A MANE Select NP_000104.1:p.Asp316Glu
Search 100 bp 5'
Search 100 bp 3'