Canonical Allele Identifier: CA2692045352
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813694-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813694A>T , CM000671.2:g.129813694A>T GRCh38
NC_000009.11:g.132575973A>T , CM000671.1:g.132575973A>T GRCh37
NC_000009.10:g.131615794A>T NCBI36
NG_008049.1:g.15469T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*278T>A MANE Select ENSP00000345719.4:n.*278T>A
ENST00000651202.1:c.*545T>A ENSP00000498222.1:n.*545T>A
ENST00000351698.4:c.*278T>A ENSP00000345719.4:n.*278T>A
ENST00000474192.1:n.861T>A
NM_000113.2:c.*278T>A NP_000104.1:n.*278T>A
XR_929731.3:n.1472T>A
NM_000113.3:c.*278T>A MANE Select NP_000104.1:n.*278T>A
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