Canonical Allele Identifier: CA339683415
Community Standard Title: NM_003680.4(YARS1):c.992C>G (p.Pro331Arg)
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32782454G>C , CM000663.2:g.32782454G>C GRCh38
NC_000001.10:g.33248055G>C , CM000663.1:g.33248055G>C GRCh37
NC_000001.9:g.33020642G>C NCBI36
NG_008408.1:g.40579C>G , LRG_273:g.40579C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.992C>G MANE Select NP_003671.1:p.Pro331Arg
ENST00000373477.9:c.992C>G MANE Select ENSP00000362576.4:p.Pro331Arg
NM_003680.3:c.992C>G , LRG_273t1:c.992C>G NP_003671.1:p.Pro331Arg
ENST00000373477.8:c.992C>G ENSP00000362576.4:p.Pro331Arg
ENST00000478828.1:n.459C>G
ENST00000487404.5:n.1302C>G
ENST00000616261.1:c.992C>G ENSP00000484192.1:p.Pro331Arg
ENST00000674629.1:c.*540C>G ENSP00000502470.1:n.*540C>G
ENST00000674654.1:c.*952C>G ENSP00000501729.1:n.*952C>G
ENST00000675785.1:c.845C>G ENSP00000502019.1:p.Pro282Arg
ENST00000675785.2:c.845C>G ENSP00000502019.1:p.Pro282Arg
ENST00000676297.1:c.*1166C>G ENSP00000501596.1:n.*1166C>G
XM_011542347.1:c.362C>G XP_011540649.1:p.Pro121Arg
XM_011542347.2:c.362C>G XP_011540649.1:p.Pro121Arg
XM_011542348.1:c.362C>G XP_011540650.1:p.Pro121Arg
XM_017002651.2:c.362C>G XP_016858140.1:p.Pro121Arg