Canonical Allele Identifier: CA467493900
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132576473G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814194G>A , CM000671.2:g.129814194G>A GRCh38
NC_000009.11:g.132576473G>A , CM000671.1:g.132576473G>A GRCh37
NC_000009.10:g.131616294G>A NCBI36
NG_008049.1:g.14969C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.777C>T MANE Select ENSP00000345719.4:p.Asp259=
ENST00000651202.1:c.*45C>T ENSP00000498222.1:n.*45C>T
ENST00000351698.4:c.777C>T ENSP00000345719.4:p.Asp259=
ENST00000474192.1:n.361C>T
NM_000113.2:c.777C>T NP_000104.1:p.Asp259=
XR_929731.1:n.1104C>T
XR_929731.3:n.972C>T
NM_000113.3:c.777C>T MANE Select NP_000104.1:p.Asp259=