Canonical Allele Identifier: CA375199305

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132581147A>T (hg19) ; chr9:g.129818868A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818868A>T , CM000671.2:g.129818868A>T	GRCh38
NC_000009.11:g.132581147A>T , CM000671.1:g.132581147A>T	GRCh37
NC_000009.10:g.131620968A>T	NCBI36
NG_008049.1:g.10295T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.497T>A MANE Select	ENSP00000345719.4:p.Ile166Asn
ENST00000651202.1:c.593T>A	ENSP00000498222.1:p.Ile198Asn
ENST00000351698.4:c.497T>A	ENSP00000345719.4:p.Ile166Asn
ENST00000473604.2:n.607T>A
NM_000113.2:c.497T>A	NP_000104.1:p.Ile166Asn
XR_929731.1:n.657T>A
XR_929731.3:n.525T>A
NM_000113.3:c.497T>A MANE Select	NP_000104.1:p.Ile166Asn