Canonical Allele Identifier: CA375197823
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814145-G-A
MyVariant Identifiers: chr9:g.132576424G>A (hg19) chr9:g.129814145G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814145G>A , CM000671.2:g.129814145G>A GRCh38
NC_000009.11:g.132576424G>A , CM000671.1:g.132576424G>A GRCh37
NC_000009.10:g.131616245G>A NCBI36
NG_008049.1:g.15018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.826C>T MANE Select ENSP00000345719.4:p.His276Tyr
ENST00000651202.1:c.*94C>T ENSP00000498222.1:n.*94C>T
ENST00000351698.4:c.826C>T ENSP00000345719.4:p.His276Tyr
ENST00000474192.1:n.410C>T
NM_000113.2:c.826C>T NP_000104.1:p.His276Tyr
XR_929731.1:n.1153C>T
XR_929731.3:n.1021C>T
NM_000113.3:c.826C>T MANE Select NP_000104.1:p.His276Tyr
Search 100 bp 5'
Search 100 bp 3'