Canonical Allele Identifier: CA375199067
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1375989366
gnomAD v2: 9-132581043-C-T
gnomAD v4: 9-129818764-C-T
MyVariant Identifiers: chr9:g.132581043C>T (hg19) chr9:g.129818764C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818764C>T , CM000671.2:g.129818764C>T GRCh38
NC_000009.11:g.132581043C>T , CM000671.1:g.132581043C>T GRCh37
NC_000009.10:g.131620864C>T NCBI36
NG_008049.1:g.10399G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.601G>A MANE Select ENSP00000345719.4:p.Ala201Thr
ENST00000651202.1:c.697G>A ENSP00000498222.1:p.Ala233Thr
ENST00000351698.4:c.601G>A ENSP00000345719.4:p.Ala201Thr
ENST00000473604.2:n.711G>A
ENST00000474192.1:n.18G>A
NM_000113.2:c.601G>A NP_000104.1:p.Ala201Thr
XR_929731.1:n.761G>A
XR_929731.3:n.629G>A
NM_000113.3:c.601G>A MANE Select NP_000104.1:p.Ala201Thr
Search 100 bp 5'
Search 100 bp 3'