Canonical Allele Identifier: CA200533675

Gene: TOR1A

Linked Data

• dbSNP Id: rs925153640
• gnomAD v3: 9-129813994-A-G
• gnomAD v4: 9-129813994-A-G
• MyVariant Identifiers: chr9:g.132576273A>G (hg19) ; chr9:g.129813994A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813994A>G , CM000671.2:g.129813994A>G	GRCh38
NC_000009.11:g.132576273A>G , CM000671.1:g.132576273A>G	GRCh37
NC_000009.10:g.131616094A>G	NCBI36
NG_008049.1:g.15169T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.977T>C MANE Select	ENSP00000345719.4:p.Leu326Ser
ENST00000651202.1:c.*245T>C	ENSP00000498222.1:n.*245T>C
ENST00000351698.4:c.977T>C	ENSP00000345719.4:p.Leu326Ser
ENST00000474192.1:n.561T>C
NM_000113.2:c.977T>C	NP_000104.1:p.Leu326Ser
XR_929731.3:n.1172T>C
NM_000113.3:c.977T>C MANE Select	NP_000104.1:p.Leu326Ser