Canonical Allele Identifier: CA2692045476
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813805-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813805G>A , CM000671.2:g.129813805G>A GRCh38
NC_000009.11:g.132576084G>A , CM000671.1:g.132576084G>A GRCh37
NC_000009.10:g.131615905G>A NCBI36
NG_008049.1:g.15358C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*167C>T MANE Select ENSP00000345719.4:n.*167C>T
ENST00000651202.1:c.*434C>T ENSP00000498222.1:n.*434C>T
ENST00000351698.4:c.*167C>T ENSP00000345719.4:n.*167C>T
ENST00000474192.1:n.750C>T
NM_000113.2:c.*167C>T NP_000104.1:n.*167C>T
XR_929731.3:n.1361C>T
NM_000113.3:c.*167C>T MANE Select NP_000104.1:n.*167C>T
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