Canonical Allele Identifier: CA5278522

Gene: TOR1A

Linked Data

• dbSNP Id: rs759673036
• ExAC: 9:132576396 A / G
• gnomAD v2: 9-132576396-A-G
• gnomAD v4: 9-129814117-A-G
• MyVariant Identifiers: chr9:g.132576396A>G (hg19) ; chr9:g.129814117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814117A>G , CM000671.2:g.129814117A>G	GRCh38
NC_000009.11:g.132576396A>G , CM000671.1:g.132576396A>G	GRCh37
NC_000009.10:g.131616217A>G	NCBI36
NG_008049.1:g.15046T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.854T>C MANE Select	ENSP00000345719.4:p.Met285Thr
ENST00000651202.1:c.*122T>C	ENSP00000498222.1:n.*122T>C
ENST00000351698.4:c.854T>C	ENSP00000345719.4:p.Met285Thr
ENST00000474192.1:n.438T>C
NM_000113.2:c.854T>C	NP_000104.1:p.Met285Thr
XR_929731.1:n.1181T>C
XR_929731.3:n.1049T>C
NM_000113.3:c.854T>C MANE Select	NP_000104.1:p.Met285Thr