Canonical Allele Identifier: CA375199060
Gene: TOR1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.132581040T>A (hg19) chr9:g.129818761T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129818761T>A , CM000671.2:g.129818761T>A GRCh38
NC_000009.11:g.132581040T>A , CM000671.1:g.132581040T>A GRCh37
NC_000009.10:g.131620861T>A NCBI36
NG_008049.1:g.10402A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000351698.5:c.604A>T MANE Select ENSP00000345719.4:p.Met202Leu
ENST00000651202.1:c.700A>T ENSP00000498222.1:p.Met234Leu
ENST00000351698.4:c.604A>T ENSP00000345719.4:p.Met202Leu
ENST00000473604.2:n.714A>T
ENST00000474192.1:n.21A>T
NM_000113.2:c.604A>T NP_000104.1:p.Met202Leu
XR_929731.1:n.764A>T
XR_929731.3:n.632A>T
NM_000113.3:c.604A>T MANE Select NP_000104.1:p.Met202Leu
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