Canonical Allele Identifier: CA239841
Gene: YARS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.32779394G>A
GRCh37 chr1:g.33244995G>A
gnomAD v2:
1:33244995 G / A
gnomAD v3:
1:32779394 G / A
gnomAD v4:
chr1-32779394-G-A
Joint Max Group AF 0.00029251 (SAS)
Genomes Max Group AF 0.00002846 (NFE)
Exomes Max Group AF 0.00030964 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32779394G>A , CM000663.2:g.32779394G>A GRCh38
NC_000001.10:g.33244995G>A , CM000663.1:g.33244995G>A GRCh37
NC_000001.9:g.33017582G>A NCBI36
NG_008408.1:g.43639C>T , LRG_273:g.43639C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1317C>T ENSP00000502019.1:p.Phe439=
ENST00000373477.9:c.1464C>T MANE Select ENSP00000362576.4:p.Phe488=
ENST00000674629.1:c.*1012C>T ENSP00000502470.1:n.*1012C>T
ENST00000674654.1:c.*1424C>T ENSP00000501729.1:n.*1424C>T
ENST00000675785.1:c.1317C>T ENSP00000502019.1:p.Phe439=
ENST00000676297.1:c.*1638C>T ENSP00000501596.1:n.*1638C>T
ENST00000373477.8:c.1464C>T ENSP00000362576.4:p.Phe488=
ENST00000469100.5:n.1380C>T
ENST00000478828.1:n.931C>T
ENST00000487404.5:n.1774C>T
ENST00000490826.1:n.1318C>T
NM_003680.3:c.1464C>T , LRG_273t1:c.1464C>T NP_003671.1:p.Phe488=
XM_011542347.1:c.834C>T XP_011540649.1:p.Phe278=
XM_011542348.1:c.834C>T XP_011540650.1:p.Phe278=
XM_011542347.2:c.834C>T XP_011540649.1:p.Phe278=
XM_017002651.2:c.834C>T XP_016858140.1:p.Phe278=
NM_003680.4:c.1464C>T MANE Select NP_003671.1:p.Phe488=
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