Canonical Allele Identifier: CA200533826

Gene: TOR1A

Linked Data

• dbSNP Id: rs545979331
• gnomAD v3: 9-129814313-G-C
• gnomAD v4: 9-129814313-G-C
• MyVariant Identifiers: chr9:g.132576592G>C (hg19) ; chr9:g.129814313G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814313G>C , CM000671.2:g.129814313G>C	GRCh38
NC_000009.11:g.132576592G>C , CM000671.1:g.132576592G>C	GRCh37
NC_000009.10:g.131616413G>C	NCBI36
NG_008049.1:g.14850C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-91C>G MANE Select	ENSP00000345719.4:n.749-91C>G
ENST00000651202.1:c.*17-91C>G	ENSP00000498222.1:n.*17-91C>G
ENST00000351698.4:c.749-91C>G	ENSP00000345719.4:n.749-91C>G
ENST00000474192.1:n.333-91C>G
NM_000113.2:c.749-91C>G	NP_000104.1:n.749-91C>G
XR_929731.1:n.1076-91C>G
XR_929731.3:n.944-91C>G
NM_000113.3:c.749-91C>G MANE Select	NP_000104.1:n.749-91C>G