Canonical Allele Identifier: CA5278541
Gene: TOR1A HGNC NCBI

Linked Data

ClinVar Variation Id: 255137
ClinVar RCV Id: RCV000247822 RCV000292494 RCV001640464 RCV002057310
dbSNP Id: rs72755217
ExAC: 9:132576512 G / T
gnomAD v2: 9-132576512-G-T
gnomAD v3: 9-129814233-G-T
gnomAD v4: 9-129814233-G-T
MyVariant Identifiers: chr9:g.132576512G>T (hg19) chr9:g.129814233G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814233G>T , CM000671.2:g.129814233G>T GRCh38
NC_000009.11:g.132576512G>T , CM000671.1:g.132576512G>T GRCh37
NC_000009.10:g.131616333G>T NCBI36
NG_008049.1:g.14930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-11C>A MANE Select ENSP00000345719.4:n.749-11C>A
ENST00000651202.1:c.*17-11C>A ENSP00000498222.1:n.*17-11C>A
ENST00000351698.4:c.749-11C>A ENSP00000345719.4:n.749-11C>A
ENST00000474192.1:n.333-11C>A
NM_000113.2:c.749-11C>A NP_000104.1:n.749-11C>A
XR_929731.1:n.1076-11C>A
XR_929731.3:n.944-11C>A
NM_000113.3:c.749-11C>A MANE Select NP_000104.1:n.749-11C>A
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