Canonical Allele Identifier: CA5278779

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 365235
• ClinVar RCV Id: RCV000402592 ; RCV000513359
• dbSNP Id: rs769210407
• ExAC: 9:132586368 C / G
• gnomAD v2: 9-132586368-C-G
• gnomAD v3: 9-129824089-C-G
• gnomAD v4: 9-129824089-C-G
• MyVariant Identifiers: chr9:g.132586368C>G (hg19) ; chr9:g.129824089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129824089C>G , CM000671.2:g.129824089C>G	GRCh38
NC_000009.11:g.132586368C>G , CM000671.1:g.132586368C>G	GRCh37
NC_000009.10:g.131626189C>G	NCBI36
NG_008049.1:g.5074G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.-4G>C MANE Select	ENSP00000345719.4:n.-4G>C
ENST00000651202.1:c.93G>C	ENSP00000498222.1:p.Pro31=
ENST00000351698.4:c.-4G>C	ENSP00000345719.4:n.-4G>C
ENST00000473084.1:n.16G>C
NM_000113.2:c.-4G>C	NP_000104.1:n.-4G>C
XR_929731.1:n.157G>C
XR_929731.3:n.25G>C
NM_000113.3:c.-4G>C MANE Select	NP_000104.1:n.-4G>C