Canonical Allele Identifier: CA5278544
Gene: TOR1A HGNC NCBI

Linked Data

dbSNP Id: rs373456677
ExAC: 9:132576520 G / A
gnomAD v2: 9-132576520-G-A
gnomAD v3: 9-129814241-G-A
gnomAD v4: 9-129814241-G-A
MyVariant Identifiers: chr9:g.132576520G>A (hg19) chr9:g.129814241G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.129814241G>A , CM000671.2:g.129814241G>A GRCh38
NC_000009.11:g.132576520G>A , CM000671.1:g.132576520G>A GRCh37
NC_000009.10:g.131616341G>A NCBI36
NG_008049.1:g.14922C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000351698.5:c.749-19C>T MANE Select ENSP00000345719.4:n.749-19C>T
ENST00000651202.1:c.*17-19C>T ENSP00000498222.1:n.*17-19C>T
ENST00000351698.4:c.749-19C>T ENSP00000345719.4:n.749-19C>T
ENST00000474192.1:n.333-19C>T
NM_000113.2:c.749-19C>T NP_000104.1:n.749-19C>T
XR_929731.1:n.1076-19C>T
XR_929731.3:n.944-19C>T
NM_000113.3:c.749-19C>T MANE Select NP_000104.1:n.749-19C>T
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