Canonical Allele Identifier: CA2786061645

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813866C>A , CM000671.2:g.129813866C>A	GRCh38
NC_000009.11:g.132576145C>A , CM000671.1:g.132576145C>A	GRCh37
NC_000009.10:g.131615966C>A	NCBI36
NG_008049.1:g.15297G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.*106G>T MANE Select	ENSP00000345719.4:n.*106G>T
ENST00000651202.1:c.*373G>T	ENSP00000498222.1:n.*373G>T
ENST00000351698.4:c.*106G>T	ENSP00000345719.4:n.*106G>T
ENST00000474192.1:n.689G>T
NM_000113.2:c.*106G>T	NP_000104.1:n.*106G>T
XR_929731.3:n.1300G>T
NM_000113.3:c.*106G>T MANE Select	NP_000104.1:n.*106G>T