Canonical Allele Identifier: CA1880972138
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814333G= , CM000671.2:g.129814333G= GRCh38
NC_000009.11:g.132576612G= , CM000671.1:g.132576612G= GRCh37
NC_000009.10:g.131616433G= NCBI36
NG_008049.1:g.14830C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-111C= MANE Select ENSP00000345719.4:n.749-111C=
ENST00000651202.1:c.*17-111C= ENSP00000498222.1:n.*17-111C=
ENST00000351698.4:c.749-111C= ENSP00000345719.4:n.749-111C=
ENST00000474192.1:n.333-111C=
NM_000113.2:c.749-111C= NP_000104.1:n.749-111C=
XR_929731.1:n.1076-111C=
XR_929731.3:n.944-111C=
NM_000113.3:c.749-111C= MANE Select NP_000104.1:n.749-111C=
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