Canonical Allele Identifier: CA375199383
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581185C>A (hg19) chr9:g.129818906C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818906C>A , CM000671.2:g.129818906C>A GRCh38
NC_000009.11:g.132581185C>A , CM000671.1:g.132581185C>A GRCh37
NC_000009.10:g.131621006C>A NCBI36
NG_008049.1:g.10257G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.459G>T MANE Select ENSP00000345719.4:p.Leu153Phe
ENST00000651202.1:c.555G>T ENSP00000498222.1:p.Leu185Phe
ENST00000351698.4:c.459G>T ENSP00000345719.4:p.Leu153Phe
ENST00000473604.2:n.569G>T
NM_000113.2:c.459G>T NP_000104.1:p.Leu153Phe
XR_929731.1:n.619G>T
XR_929731.3:n.487G>T
NM_000113.3:c.459G>T MANE Select NP_000104.1:p.Leu153Phe
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