Canonical Allele Identifier: CA5278494
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs762832083
ExAC: 9:132576233 G / A
gnomAD v2: 9-132576233-G-A
gnomAD v3: 9-129813954-G-A
gnomAD v4: 9-129813954-G-A
MyVariant Identifiers: chr9:g.132576233G>A (hg19) chr9:g.129813954G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813954G>A , CM000671.2:g.129813954G>A GRCh38
NC_000009.11:g.132576233G>A , CM000671.1:g.132576233G>A GRCh37
NC_000009.10:g.131616054G>A NCBI36
NG_008049.1:g.15209C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.*18C>T MANE Select ENSP00000345719.4:n.*18C>T
ENST00000651202.1:c.*285C>T ENSP00000498222.1:n.*285C>T
ENST00000351698.4:c.*18C>T ENSP00000345719.4:n.*18C>T
ENST00000474192.1:n.601C>T
NM_000113.2:c.*18C>T NP_000104.1:n.*18C>T
XR_929731.3:n.1212C>T
NM_000113.3:c.*18C>T MANE Select NP_000104.1:n.*18C>T
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