Canonical Allele Identifier: CA2692045436
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813772-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813772A>C , CM000671.2:g.129813772A>C GRCh38
NC_000009.11:g.132576051A>C , CM000671.1:g.132576051A>C GRCh37
NC_000009.10:g.131615872A>C NCBI36
NG_008049.1:g.15391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*200T>G MANE Select ENSP00000345719.4:n.*200T>G
ENST00000651202.1:c.*467T>G ENSP00000498222.1:n.*467T>G
ENST00000351698.4:c.*200T>G ENSP00000345719.4:n.*200T>G
ENST00000474192.1:n.783T>G
NM_000113.2:c.*200T>G NP_000104.1:n.*200T>G
XR_929731.3:n.1394T>G
NM_000113.3:c.*200T>G MANE Select NP_000104.1:n.*200T>G
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