Canonical Allele Identifier: CA1880972141

Gene: TOR1A

Linked Data

• dbSNP Id: rs2030977860

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814337_129814341dup , CM000671.2:g.129814337_129814341dup	GRCh38
NC_000009.11:g.132576616_132576620dup , CM000671.1:g.132576616_132576620dup	GRCh37
NC_000009.10:g.131616437_131616441dup	NCBI36
NG_008049.1:g.14823_14827dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-118_749-114dup MANE Select	ENSP00000345719.4:n.749-118_749-114dup
ENST00000651202.1:c.*17-118_*17-114dup	ENSP00000498222.1:n.*17-118_*17-114dup
ENST00000351698.4:c.749-118_749-114dup	ENSP00000345719.4:n.749-118_749-114dup
ENST00000474192.1:n.333-118_333-114dup
NM_000113.2:c.749-118_749-114dup	NP_000104.1:n.749-118_749-114dup
XR_929731.1:n.1076-118_1076-114dup
XR_929731.3:n.944-118_944-114dup
NM_000113.3:c.749-118_749-114dup MANE Select	NP_000104.1:n.749-118_749-114dup