Canonical Allele Identifier: CA467493688
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576305T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814026T>G , CM000671.2:g.129814026T>G GRCh38
NC_000009.11:g.132576305T>G , CM000671.1:g.132576305T>G GRCh37
NC_000009.10:g.131616126T>G NCBI36
NG_008049.1:g.15137A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.945A>C MANE Select ENSP00000345719.4:p.Ser315=
ENST00000651202.1:c.*213A>C ENSP00000498222.1:n.*213A>C
ENST00000351698.4:c.945A>C ENSP00000345719.4:p.Ser315=
ENST00000474192.1:n.529A>C
NM_000113.2:c.945A>C NP_000104.1:p.Ser315=
XR_929731.3:n.1140A>C
NM_000113.3:c.945A>C MANE Select NP_000104.1:p.Ser315=
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