Canonical Allele Identifier: CA375197999
Gene: TOR1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814190T>C , CM000671.2:g.129814190T>C GRCh38
NC_000009.11:g.132576469T>C , CM000671.1:g.132576469T>C GRCh37
NC_000009.10:g.131616290T>C NCBI36
NG_008049.1:g.14973A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.781A>G MANE Select ENSP00000345719.4:p.Asn261Asp
ENST00000651202.1:c.*49A>G ENSP00000498222.1:n.*49A>G
ENST00000351698.4:c.781A>G ENSP00000345719.4:p.Asn261Asp
ENST00000474192.1:n.365A>G
NM_000113.2:c.781A>G NP_000104.1:p.Asn261Asp
XR_929731.1:n.1108A>G
XR_929731.3:n.976A>G
NM_000113.3:c.781A>G MANE Select NP_000104.1:p.Asn261Asp