Canonical Allele Identifier: CA375198138
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576500A>T (hg19) chr9:g.129814221A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814221A>T , CM000671.2:g.129814221A>T GRCh38
NC_000009.11:g.132576500A>T , CM000671.1:g.132576500A>T GRCh37
NC_000009.10:g.131616321A>T NCBI36
NG_008049.1:g.14942T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.750T>A MANE Select ENSP00000345719.4:p.Ser250Arg
ENST00000651202.1:c.*18T>A ENSP00000498222.1:n.*18T>A
ENST00000351698.4:c.750T>A ENSP00000345719.4:p.Ser250Arg
ENST00000474192.1:n.334T>A
NM_000113.2:c.750T>A NP_000104.1:p.Ser250Arg
XR_929731.1:n.1077T>A
XR_929731.3:n.945T>A
NM_000113.3:c.750T>A MANE Select NP_000104.1:p.Ser250Arg
Search 100 bp 5'
Search 100 bp 3'