Canonical Allele Identifier: CA2743093528
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32779971G>A , CM000663.2:g.32779971G>A GRCh38
NC_000001.10:g.33245572G>A , CM000663.1:g.33245572G>A GRCh37
NC_000001.9:g.33018159G>A NCBI36
NG_008408.1:g.43062C>T , LRG_273:g.43062C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1187+114C>T ENSP00000502019.1:n.1187+114C>T
ENST00000373477.9:c.1334+114C>T MANE Select ENSP00000362576.4:n.1334+114C>T
ENST00000674629.1:c.*882+114C>T ENSP00000502470.1:n.*882+114C>T
ENST00000674654.1:c.*1294+114C>T ENSP00000501729.1:n.*1294+114C>T
ENST00000675785.1:c.1187+114C>T ENSP00000502019.1:n.1187+114C>T
ENST00000676297.1:c.*1508+114C>T ENSP00000501596.1:n.*1508+114C>T
ENST00000373477.8:c.1334+114C>T ENSP00000362576.4:n.1334+114C>T
ENST00000469100.5:n.1250+114C>T
ENST00000478828.1:n.801+114C>T
ENST00000487404.5:n.1644+114C>T
ENST00000490826.1:n.741C>T
NM_003680.3:c.1334+114C>T , LRG_273t1:c.1334+114C>T NP_003671.1:n.1334+114C>T
XM_011542347.1:c.704+114C>T XP_011540649.1:n.704+114C>T
XM_011542348.1:c.704+114C>T XP_011540650.1:n.704+114C>T
XM_011542347.2:c.704+114C>T XP_011540649.1:n.704+114C>T
XM_017002651.2:c.704+114C>T XP_016858140.1:n.704+114C>T
NM_003680.4:c.1334+114C>T MANE Select NP_003671.1:n.1334+114C>T