Canonical Allele Identifier: CA2739272450
Community Standard Title: NM_003680.4(YARS1):c.380+13T>G
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32810578A>C , CM000663.2:g.32810578A>C GRCh38
NC_000001.10:g.33276179A>C , CM000663.1:g.33276179A>C GRCh37
NC_000001.9:g.33048766A>C NCBI36
NG_008408.1:g.12455T>G , LRG_273:g.12455T>G

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.380+13T>G MANE Select NP_003671.1:n.380+13T>G
ENST00000373477.9:c.380+13T>G MANE Select ENSP00000362576.4:n.380+13T>G
NM_003680.3:c.380+13T>G , LRG_273t1:c.380+13T>G NP_003671.1:n.380+13T>G
ENST00000373477.8:c.380+13T>G ENSP00000362576.4:n.380+13T>G
ENST00000481895.5:n.453+13T>G
ENST00000481895.6:c.380+13T>G ENSP00000502016.1:n.380+13T>G
ENST00000616261.1:c.380+13T>G ENSP00000484192.1:n.380+13T>G
ENST00000616261.2:c.380+13T>G ENSP00000484192.2:n.380+13T>G
ENST00000674629.1:c.58-3967T>G ENSP00000502470.1:n.58-3967T>G
ENST00000674654.1:c.380+13T>G ENSP00000501729.1:n.380+13T>G
ENST00000675785.1:c.233+13T>G ENSP00000502019.1:n.233+13T>G
ENST00000675785.2:c.233+13T>G ENSP00000502019.1:n.233+13T>G
ENST00000676297.1:c.380+13T>G ENSP00000501596.1:n.380+13T>G
XM_011542347.1:c.-250-3967T>G XP_011540649.1:n.-250-3967T>G
XM_011542347.2:c.-250-3967T>G XP_011540649.1:n.-250-3967T>G
XM_011542348.1:c.-297-3967T>G XP_011540650.1:n.-297-3967T>G
XM_017002651.2:c.-298+13T>G XP_016858140.1:n.-298+13T>G