Canonical Allele Identifier: CA2692045359
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129813707-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813707C>A , CM000671.2:g.129813707C>A GRCh38
NC_000009.11:g.132575986C>A , CM000671.1:g.132575986C>A GRCh37
NC_000009.10:g.131615807C>A NCBI36
NG_008049.1:g.15456G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*265G>T MANE Select ENSP00000345719.4:n.*265G>T
ENST00000651202.1:c.*532G>T ENSP00000498222.1:n.*532G>T
ENST00000351698.4:c.*265G>T ENSP00000345719.4:n.*265G>T
ENST00000474192.1:n.848G>T
NM_000113.2:c.*265G>T NP_000104.1:n.*265G>T
XR_929731.3:n.1459G>T
NM_000113.3:c.*265G>T MANE Select NP_000104.1:n.*265G>T
Search 100 bp 5'
Search 100 bp 3'