Canonical Allele Identifier: CA2786061650
Gene: TOR1A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813934C>A , CM000671.2:g.129813934C>A GRCh38
NC_000009.11:g.132576213C>A , CM000671.1:g.132576213C>A GRCh37
NC_000009.10:g.131616034C>A NCBI36
NG_008049.1:g.15229G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*38G>T MANE Select ENSP00000345719.4:n.*38G>T
ENST00000651202.1:c.*305G>T ENSP00000498222.1:n.*305G>T
ENST00000351698.4:c.*38G>T ENSP00000345719.4:n.*38G>T
ENST00000474192.1:n.621G>T
NM_000113.2:c.*38G>T NP_000104.1:n.*38G>T
XR_929731.3:n.1232G>T
NM_000113.3:c.*38G>T MANE Select NP_000104.1:n.*38G>T
Search 100 bp 5'
Search 100 bp 3'