Canonical Allele Identifier: CA200533567
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs549276104
gnomAD v3: 9-129813672-A-G
gnomAD v4: 9-129813672-A-G
MyVariant Identifiers: chr9:g.132575951A>G (hg19) chr9:g.129813672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813672A>G , CM000671.2:g.129813672A>G GRCh38
NC_000009.11:g.132575951A>G , CM000671.1:g.132575951A>G GRCh37
NC_000009.10:g.131615772A>G NCBI36
NG_008049.1:g.15491T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*300T>C MANE Select ENSP00000345719.4:n.*300T>C
ENST00000651202.1:c.*567T>C ENSP00000498222.1:n.*567T>C
ENST00000351698.4:c.*300T>C ENSP00000345719.4:n.*300T>C
ENST00000474192.1:n.883T>C
NM_000113.2:c.*300T>C NP_000104.1:n.*300T>C
XR_929731.3:n.1494T>C
NM_000113.3:c.*300T>C MANE Select NP_000104.1:n.*300T>C
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