Canonical Allele Identifier: CA2579478301
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814316-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814316C>A , CM000671.2:g.129814316C>A GRCh38
NC_000009.11:g.132576595C>A , CM000671.1:g.132576595C>A GRCh37
NC_000009.10:g.131616416C>A NCBI36
NG_008049.1:g.14847G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-94G>T MANE Select ENSP00000345719.4:n.749-94G>T
ENST00000651202.1:c.*17-94G>T ENSP00000498222.1:n.*17-94G>T
ENST00000351698.4:c.749-94G>T ENSP00000345719.4:n.749-94G>T
ENST00000474192.1:n.333-94G>T
NM_000113.2:c.749-94G>T NP_000104.1:n.749-94G>T
XR_929731.1:n.1076-94G>T
XR_929731.3:n.944-94G>T
NM_000113.3:c.749-94G>T MANE Select NP_000104.1:n.749-94G>T
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