Canonical Allele Identifier: CA375198146
Gene: TOR1A HGNC NCBI

Linked Data

gnomAD v4: 9-129814222-C-T
MyVariant Identifiers: chr9:g.132576501C>T (hg19) chr9:g.129814222C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814222C>T , CM000671.2:g.129814222C>T GRCh38
NC_000009.11:g.132576501C>T , CM000671.1:g.132576501C>T GRCh37
NC_000009.10:g.131616322C>T NCBI36
NG_008049.1:g.14941G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749G>A MANE Select ENSP00000345719.4:p.Ser250Asn
ENST00000651202.1:c.*17G>A ENSP00000498222.1:n.*17G>A
ENST00000351698.4:c.749G>A ENSP00000345719.4:p.Ser250Asn
ENST00000474192.1:n.333G>A
NM_000113.2:c.749G>A NP_000104.1:p.Ser250Asn
XR_929731.1:n.1076G>A
XR_929731.3:n.944G>A
NM_000113.3:c.749G>A MANE Select NP_000104.1:p.Ser250Asn
Search 100 bp 5'
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