Canonical Allele Identifier: CA2786061674

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814300T>A , CM000671.2:g.129814300T>A	GRCh38
NC_000009.11:g.132576579T>A , CM000671.1:g.132576579T>A	GRCh37
NC_000009.10:g.131616400T>A	NCBI36
NG_008049.1:g.14863A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-78A>T MANE Select	ENSP00000345719.4:n.749-78A>T
ENST00000651202.1:c.*17-78A>T	ENSP00000498222.1:n.*17-78A>T
ENST00000351698.4:c.749-78A>T	ENSP00000345719.4:n.749-78A>T
ENST00000474192.1:n.333-78A>T
NM_000113.2:c.749-78A>T	NP_000104.1:n.749-78A>T
XR_929731.1:n.1076-78A>T
XR_929731.3:n.944-78A>T
NM_000113.3:c.749-78A>T MANE Select	NP_000104.1:n.749-78A>T