Canonical Allele Identifier: CA339337
Gene: AARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 216549
dbSNP Id: rs141840552

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.70270312G>A , CM000678.2:g.70270312G>A GRCh38
NC_000016.9:g.70304215G>A , CM000678.1:g.70304215G>A GRCh37
NC_000016.8:g.68861716G>A NCBI36
NG_023191.1:g.24198C>T , LRG_359:g.24198C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261772.13:c.700C>T MANE Select ENSP00000261772.8:p.Pro234Ser
ENST00000564359.6:n.858C>T
ENST00000565361.3:c.700C>T ENSP00000455360.3:p.Pro234Ser
ENST00000674512.1:c.700C>T ENSP00000501613.1:p.Pro234Ser
ENST00000674652.1:c.672-549C>T ENSP00000502620.1:n.672-549C>T
ENST00000674691.1:c.700C>T ENSP00000502247.1:p.Pro234Ser
ENST00000674768.1:c.700C>T ENSP00000501679.1:p.Pro234Ser
ENST00000674811.1:c.700C>T ENSP00000502055.1:p.Pro234Ser
ENST00000674848.1:n.749C>T
ENST00000674962.1:n.858C>T
ENST00000674963.1:c.700C>T ENSP00000501924.1:p.Pro234Ser
ENST00000675035.1:c.700C>T ENSP00000502712.1:p.Pro234Ser
ENST00000675045.1:c.700C>T ENSP00000502014.1:p.Pro234Ser
ENST00000675120.1:c.700C>T ENSP00000502823.1:p.Pro234Ser
ENST00000675133.1:c.700C>T ENSP00000502230.1:p.Pro234Ser
ENST00000675270.1:n.952-549C>T
ENST00000675297.1:c.700C>T ENSP00000502753.1:p.Pro234Ser
ENST00000675338.1:n.856C>T
ENST00000675371.1:c.700C>T ENSP00000502645.1:p.Pro234Ser
ENST00000675403.1:n.858C>T
ENST00000675569.1:c.700C>T ENSP00000502534.1:p.Pro234Ser
ENST00000675643.1:c.700C>T ENSP00000502797.1:p.Pro234Ser
ENST00000675691.1:c.672-549C>T ENSP00000502196.1:n.672-549C>T
ENST00000675751.1:c.672-549C>T ENSP00000502277.1:n.672-549C>T
ENST00000675853.1:c.700C>T ENSP00000502367.1:p.Pro234Ser
ENST00000675917.1:n.997C>T
ENST00000675953.1:c.616C>T ENSP00000502321.1:p.Pro206Ser
ENST00000675986.1:n.858C>T
ENST00000676004.1:c.*699C>T ENSP00000502765.1:n.*699C>T
ENST00000676040.1:c.700C>T ENSP00000502108.1:p.Pro234Ser
ENST00000676168.1:c.700C>T ENSP00000502479.1:p.Pro234Ser
ENST00000676209.1:c.700C>T ENSP00000502052.1:p.Pro234Ser
ENST00000676211.1:c.672-549C>T ENSP00000502726.1:n.672-549C>T
ENST00000676212.1:c.700C>T ENSP00000501853.1:p.Pro234Ser
ENST00000676247.1:c.700C>T ENSP00000502699.1:p.Pro234Ser
ENST00000261772.12:c.700C>T ENSP00000261772.7:p.Pro234Ser
NM_001605.2:c.700C>T , LRG_359t1:c.700C>T NP_001596.2:p.Pro234Ser
XR_933220.1:n.851C>T
XR_933220.3:n.810C>T
NM_001605.3:c.700C>T MANE Select NP_001596.2:p.Pro234Ser