Canonical Allele Identifier: CA2692045307
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813594-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813594T>A , CM000671.2:g.129813594T>A GRCh38
NC_000009.11:g.132575873T>A , CM000671.1:g.132575873T>A GRCh37
NC_000009.10:g.131615694T>A NCBI36
NG_008049.1:g.15569A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*378A>T MANE Select ENSP00000345719.4:n.*378A>T
ENST00000651202.1:c.*645A>T ENSP00000498222.1:n.*645A>T
ENST00000351698.4:c.*378A>T ENSP00000345719.4:n.*378A>T
NM_000113.2:c.*378A>T NP_000104.1:n.*378A>T
XR_929731.3:n.1572A>T
NM_000113.3:c.*378A>T MANE Select NP_000104.1:n.*378A>T
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