Canonical Allele Identifier: CA2579478298

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129814249C>G , CM000671.2:g.129814249C>G	GRCh38
NC_000009.11:g.132576528C>G , CM000671.1:g.132576528C>G	GRCh37
NC_000009.10:g.131616349C>G	NCBI36
NG_008049.1:g.14914G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.749-27G>C MANE Select	ENSP00000345719.4:n.749-27G>C
ENST00000651202.1:c.*17-27G>C	ENSP00000498222.1:n.*17-27G>C
ENST00000351698.4:c.749-27G>C	ENSP00000345719.4:n.749-27G>C
ENST00000474192.1:n.333-27G>C
NM_000113.2:c.749-27G>C	NP_000104.1:n.749-27G>C
XR_929731.1:n.1076-27G>C
XR_929731.3:n.944-27G>C
NM_000113.3:c.749-27G>C MANE Select	NP_000104.1:n.749-27G>C