Canonical Allele Identifier: CA375197316
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576270T>G (hg19) chr9:g.129813991T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129813991T>G , CM000671.2:g.129813991T>G GRCh38
NC_000009.11:g.132576270T>G , CM000671.1:g.132576270T>G GRCh37
NC_000009.10:g.131616091T>G NCBI36
NG_008049.1:g.15172A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.980A>C MANE Select ENSP00000345719.4:p.Asp327Ala
ENST00000651202.1:c.*248A>C ENSP00000498222.1:n.*248A>C
ENST00000351698.4:c.980A>C ENSP00000345719.4:p.Asp327Ala
ENST00000474192.1:n.564A>C
NM_000113.2:c.980A>C NP_000104.1:p.Asp327Ala
XR_929731.3:n.1175A>C
NM_000113.3:c.980A>C MANE Select NP_000104.1:p.Asp327Ala
Search 100 bp 5'
Search 100 bp 3'