Canonical Allele Identifier: CA375198155

Gene: TOR1A

Linked Data

• MyVariant Identifiers: chr9:g.132576503T>C (hg19) ; chr9:g.129814224T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814224T>C , CM000671.2:g.129814224T>C	GRCh38
NC_000009.11:g.132576503T>C , CM000671.1:g.132576503T>C	GRCh37
NC_000009.10:g.131616324T>C	NCBI36
NG_008049.1:g.14939A>G

Transcript Alleles

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