Canonical Allele Identifier: CA2786061631

Gene: TOR1A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129813681G>C , CM000671.2:g.129813681G>C	GRCh38
NC_000009.11:g.132575960G>C , CM000671.1:g.132575960G>C	GRCh37
NC_000009.10:g.131615781G>C	NCBI36
NG_008049.1:g.15482C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000351698.5:c.*291C>G MANE Select	ENSP00000345719.4:n.*291C>G
ENST00000651202.1:c.*558C>G	ENSP00000498222.1:n.*558C>G
ENST00000351698.4:c.*291C>G	ENSP00000345719.4:n.*291C>G
ENST00000474192.1:n.874C>G
NM_000113.2:c.*291C>G	NP_000104.1:n.*291C>G
XR_929731.3:n.1485C>G
NM_000113.3:c.*291C>G MANE Select	NP_000104.1:n.*291C>G