Canonical Allele Identifier: CA375199032
Community Standard Title: NM_000113.3(TOR1A):c.615T>G (p.Phe205Leu)
Gene: TOR1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818750A>C , CM000671.2:g.129818750A>C GRCh38
NC_000009.11:g.132581029A>C , CM000671.1:g.132581029A>C GRCh37
NC_000009.10:g.131620850A>C NCBI36
NG_008049.1:g.10413T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000113.3:c.615T>G MANE Select NP_000104.1:p.Phe205Leu
ENST00000351698.5:c.615T>G MANE Select ENSP00000345719.4:p.Phe205Leu
NM_000113.2:c.615T>G NP_000104.1:p.Phe205Leu
ENST00000351698.4:c.615T>G ENSP00000345719.4:p.Phe205Leu
ENST00000473604.2:n.725T>G
ENST00000474192.1:n.32T>G
ENST00000651202.1:c.711T>G ENSP00000498222.1:p.Phe237Leu
XR_929731.1:n.775T>G
XR_929731.3:n.643T>G