Canonical Allele Identifier: CA860375186
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1186729397
gnomAD v3: 9-129813562-C-A
gnomAD v4: 9-129813562-C-A
MyVariant Identifiers: chr9:g.132575841C>A (hg19) chr9:g.129813562C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813562C>A , CM000671.2:g.129813562C>A GRCh38
NC_000009.11:g.132575841C>A , CM000671.1:g.132575841C>A GRCh37
NC_000009.10:g.131615662C>A NCBI36
NG_008049.1:g.15601G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*410G>T MANE Select ENSP00000345719.4:n.*410G>T
ENST00000651202.1:c.*677G>T ENSP00000498222.1:n.*677G>T
ENST00000351698.4:c.*410G>T ENSP00000345719.4:n.*410G>T
NM_000113.2:c.*410G>T NP_000104.1:n.*410G>T
XR_929731.3:n.1604G>T
NM_000113.3:c.*410G>T MANE Select NP_000104.1:n.*410G>T
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