Canonical Allele Identifier: CA1129452283
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs2030957900
gnomAD v3: 9-129813780-G-C
gnomAD v4: 9-129813780-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813780G>C , CM000671.2:g.129813780G>C GRCh38
NC_000009.11:g.132576059G>C , CM000671.1:g.132576059G>C GRCh37
NC_000009.10:g.131615880G>C NCBI36
NG_008049.1:g.15383C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*192C>G MANE Select ENSP00000345719.4:n.*192C>G
ENST00000651202.1:c.*459C>G ENSP00000498222.1:n.*459C>G
ENST00000351698.4:c.*192C>G ENSP00000345719.4:n.*192C>G
ENST00000474192.1:n.775C>G
NM_000113.2:c.*192C>G NP_000104.1:n.*192C>G
XR_929731.3:n.1386C>G
NM_000113.3:c.*192C>G MANE Select NP_000104.1:n.*192C>G
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