Canonical Allele Identifier: CA2786061675

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814305T>C , CM000671.2:g.129814305T>C	GRCh38
NC_000009.11:g.132576584T>C , CM000671.1:g.132576584T>C	GRCh37
NC_000009.10:g.131616405T>C	NCBI36
NG_008049.1:g.14858A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-83A>G MANE Select	ENSP00000345719.4:n.749-83A>G
ENST00000651202.1:c.*17-83A>G	ENSP00000498222.1:n.*17-83A>G
ENST00000351698.4:c.749-83A>G	ENSP00000345719.4:n.749-83A>G
ENST00000474192.1:n.333-83A>G
NM_000113.2:c.749-83A>G	NP_000104.1:n.749-83A>G
XR_929731.1:n.1076-83A>G
XR_929731.3:n.944-83A>G
NM_000113.3:c.749-83A>G MANE Select	NP_000104.1:n.749-83A>G