Canonical Allele Identifier: CA5278530

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 255138
• ClinVar RCV Id: RCV000252751 ; RCV001431317
• dbSNP Id: rs144903607
• ExAC: 9:132576437 G / C
• gnomAD v2: 9-132576437-G-C
• gnomAD v3: 9-129814158-G-C
• gnomAD v4: 9-129814158-G-C
• MyVariant Identifiers: chr9:g.132576437G>C (hg19) ; chr9:g.129814158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814158G>C , CM000671.2:g.129814158G>C	GRCh38
NC_000009.11:g.132576437G>C , CM000671.1:g.132576437G>C	GRCh37
NC_000009.10:g.131616258G>C	NCBI36
NG_008049.1:g.15005C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.813C>G MANE Select	ENSP00000345719.4:p.Pro271=
ENST00000651202.1:c.*81C>G	ENSP00000498222.1:n.*81C>G
ENST00000351698.4:c.813C>G	ENSP00000345719.4:p.Pro271=
ENST00000474192.1:n.397C>G
NM_000113.2:c.813C>G	NP_000104.1:p.Pro271=
XR_929731.1:n.1140C>G
XR_929731.3:n.1008C>G
NM_000113.3:c.813C>G MANE Select	NP_000104.1:p.Pro271=