Canonical Allele Identifier: CA2579478321
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129818978-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818978T>A , CM000671.2:g.129818978T>A GRCh38
NC_000009.11:g.132581257T>A , CM000671.1:g.132581257T>A GRCh37
NC_000009.10:g.131621078T>A NCBI36
NG_008049.1:g.10185A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.445-58A>T MANE Select ENSP00000345719.4:n.445-58A>T
ENST00000651202.1:c.541-58A>T ENSP00000498222.1:n.541-58A>T
ENST00000351698.4:c.445-58A>T ENSP00000345719.4:n.445-58A>T
ENST00000473604.2:n.555-58A>T
NM_000113.2:c.445-58A>T NP_000104.1:n.445-58A>T
XR_929731.1:n.605-58A>T
XR_929731.3:n.473-58A>T
NM_000113.3:c.445-58A>T MANE Select NP_000104.1:n.445-58A>T
Search 100 bp 5'
Search 100 bp 3'