Canonical Allele Identifier: CA2692045477
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813806-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813806G>T , CM000671.2:g.129813806G>T GRCh38
NC_000009.11:g.132576085G>T , CM000671.1:g.132576085G>T GRCh37
NC_000009.10:g.131615906G>T NCBI36
NG_008049.1:g.15357C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*166C>A MANE Select ENSP00000345719.4:n.*166C>A
ENST00000651202.1:c.*433C>A ENSP00000498222.1:n.*433C>A
ENST00000351698.4:c.*166C>A ENSP00000345719.4:n.*166C>A
ENST00000474192.1:n.749C>A
NM_000113.2:c.*166C>A NP_000104.1:n.*166C>A
XR_929731.3:n.1360C>A
NM_000113.3:c.*166C>A MANE Select NP_000104.1:n.*166C>A
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