Canonical Allele Identifier: CA2692045363
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs1449967057
gnomAD v4: 9-129813719-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813719G>T , CM000671.2:g.129813719G>T GRCh38
NC_000009.11:g.132575998G>T , CM000671.1:g.132575998G>T GRCh37
NC_000009.10:g.131615819G>T NCBI36
NG_008049.1:g.15444C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*253C>A MANE Select ENSP00000345719.4:n.*253C>A
ENST00000651202.1:c.*520C>A ENSP00000498222.1:n.*520C>A
ENST00000351698.4:c.*253C>A ENSP00000345719.4:n.*253C>A
ENST00000474192.1:n.836C>A
NM_000113.2:c.*253C>A NP_000104.1:n.*253C>A
XR_929731.3:n.1447C>A
NM_000113.3:c.*253C>A MANE Select NP_000104.1:n.*253C>A
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