Canonical Allele Identifier: CA5278652

Gene: TOR1A

Linked Data

• dbSNP Id: rs201899335
• ExAC: 9:132581222 G / A
• gnomAD v2: 9-132581222-G-A
• gnomAD v3: 9-129818943-G-A
• gnomAD v4: 9-129818943-G-A
• MyVariant Identifiers: chr9:g.132581222G>A (hg19) ; chr9:g.129818943G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818943G>A , CM000671.2:g.129818943G>A	GRCh38
NC_000009.11:g.132581222G>A , CM000671.1:g.132581222G>A	GRCh37
NC_000009.10:g.131621043G>A	NCBI36
NG_008049.1:g.10220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-23C>T MANE Select	ENSP00000345719.4:n.445-23C>T
ENST00000651202.1:c.541-23C>T	ENSP00000498222.1:n.541-23C>T
ENST00000351698.4:c.445-23C>T	ENSP00000345719.4:n.445-23C>T
ENST00000473604.2:n.555-23C>T
NM_000113.2:c.445-23C>T	NP_000104.1:n.445-23C>T
XR_929731.1:n.605-23C>T
XR_929731.3:n.473-23C>T
NM_000113.3:c.445-23C>T MANE Select	NP_000104.1:n.445-23C>T