Canonical Allele Identifier: CA5278488
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs770561102
ExAC: 9:132576203 G / A
gnomAD v2: 9-132576203-G-A
gnomAD v3: 9-129813924-G-A
gnomAD v4: 9-129813924-G-A
MyVariant Identifiers: chr9:g.132576203G>A (hg19) chr9:g.129813924G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813924G>A , CM000671.2:g.129813924G>A GRCh38
NC_000009.11:g.132576203G>A , CM000671.1:g.132576203G>A GRCh37
NC_000009.10:g.131616024G>A NCBI36
NG_008049.1:g.15239C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.*48C>T MANE Select ENSP00000345719.4:n.*48C>T
ENST00000651202.1:c.*315C>T ENSP00000498222.1:n.*315C>T
ENST00000351698.4:c.*48C>T ENSP00000345719.4:n.*48C>T
ENST00000474192.1:n.631C>T
NM_000113.2:c.*48C>T NP_000104.1:n.*48C>T
XR_929731.3:n.1242C>T
NM_000113.3:c.*48C>T MANE Select NP_000104.1:n.*48C>T
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