Canonical Allele Identifier: CA745270
Gene: YARS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.32810939A>G
GRCh37 chr1:g.33276540A>G
Revel Score:
ENST00000373477 (MANE Select) 0.667
gnomAD v2:
1:33276540 A / G
gnomAD v3:
1:32810939 A / G
gnomAD v4:
chr1-32810939-A-G
Joint Max Group AF 0.00002988 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002999 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32810939A>G , CM000663.2:g.32810939A>G GRCh38
NC_000001.10:g.33276540A>G , CM000663.1:g.33276540A>G GRCh37
NC_000001.9:g.33049127A>G NCBI36
NG_008408.1:g.12094T>C , LRG_273:g.12094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.58-173T>C ENSP00000502019.1:n.58-173T>C
ENST00000373477.9:c.176T>C MANE Select ENSP00000362576.4:p.Ile59Thr
ENST00000481895.6:c.176T>C ENSP00000502016.1:p.Ile59Thr
ENST00000616261.2:c.176T>C ENSP00000484192.2:p.Ile59Thr
ENST00000674629.1:c.58-4328T>C ENSP00000502470.1:n.58-4328T>C
ENST00000674654.1:c.176T>C ENSP00000501729.1:p.Ile59Thr
ENST00000675785.1:c.58-173T>C ENSP00000502019.1:n.58-173T>C
ENST00000676297.1:c.176T>C ENSP00000501596.1:p.Ile59Thr
ENST00000373477.8:c.176T>C ENSP00000362576.4:p.Ile59Thr
ENST00000472692.1:n.709T>C
ENST00000481895.5:n.249T>C
ENST00000616261.1:c.176T>C ENSP00000484192.1:p.Ile59Thr
NM_003680.3:c.176T>C , LRG_273t1:c.176T>C NP_003671.1:p.Ile59Thr
XM_011542347.1:c.-250-4328T>C XP_011540649.1:n.-250-4328T>C
XM_011542348.1:c.-297-4328T>C XP_011540650.1:n.-297-4328T>C
XM_011542347.2:c.-250-4328T>C XP_011540649.1:n.-250-4328T>C
XM_017002651.2:c.-502T>C XP_016858140.1:n.-502T>C
NM_003680.4:c.176T>C MANE Select NP_003671.1:p.Ile59Thr
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