Canonical Allele Identifier: CA200535155
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs955676559
gnomAD v3: 9-129818762-G-A
gnomAD v4: 9-129818762-G-A
MyVariant Identifiers: chr9:g.132581041G>A (hg19) chr9:g.129818762G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818762G>A , CM000671.2:g.129818762G>A GRCh38
NC_000009.11:g.132581041G>A , CM000671.1:g.132581041G>A GRCh37
NC_000009.10:g.131620862G>A NCBI36
NG_008049.1:g.10401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.603C>T MANE Select ENSP00000345719.4:p.Ala201=
ENST00000651202.1:c.699C>T ENSP00000498222.1:p.Ala233=
ENST00000351698.4:c.603C>T ENSP00000345719.4:p.Ala201=
ENST00000473604.2:n.713C>T
ENST00000474192.1:n.20C>T
NM_000113.2:c.603C>T NP_000104.1:p.Ala201=
XR_929731.1:n.763C>T
XR_929731.3:n.631C>T
NM_000113.3:c.603C>T MANE Select NP_000104.1:p.Ala201=
Search 100 bp 5'
Search 100 bp 3'