Canonical Allele Identifier: CA198550
Gene: YARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 187863
ClinVar RCV Id: RCV000167583
dbSNP Id: rs786204003

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32810729_32810730delinsAT , CM000663.2:g.32810729_32810730delinsAT GRCh38
NC_000001.10:g.33276330_33276331delinsAT , CM000663.1:g.33276330_33276331delinsAT GRCh37
NC_000001.9:g.33048917_33048918delinsAT NCBI36
NG_008408.1:g.12303_12304delinsAT , LRG_273:g.12303_12304delinsAT

Transcript Alleles

HGVS Amino-acid change
ENST00000675785.2:c.94_95delinsAT ENSP00000502019.1:p.Asp32Ile
ENST00000373477.9:c.241_242delinsAT MANE Select ENSP00000362576.4:p.Asp81Ile
ENST00000481895.6:c.241_242delinsAT ENSP00000502016.1:p.Asp81Ile
ENST00000616261.2:c.241_242delinsAT ENSP00000484192.2:p.Asp81Ile
ENST00000674629.1:c.58-4119_58-4118delinsAT ENSP00000502470.1:n.58-4119_58-4118delins...
ENST00000674654.1:c.241_242delinsAT ENSP00000501729.1:p.Asp81Ile
ENST00000675785.1:c.94_95delinsAT ENSP00000502019.1:p.Asp32Ile
ENST00000676297.1:c.241_242delinsAT ENSP00000501596.1:p.Asp81Ile
ENST00000373477.8:c.241_242delinsAT ENSP00000362576.4:p.Asp81Ile
ENST00000481895.5:n.314_315delinsAT
ENST00000616261.1:c.241_242delinsAT ENSP00000484192.1:p.Asp81Ile
NM_003680.3:c.241_242delinsAT , LRG_273t1:c.241_242delinsAT NP_003671.1:p.Asp81Ile
XM_011542347.1:c.-250-4119_-250-4118delinsAT XP_011540649.1:n.-250-4119_-250-4118delin...
XM_011542348.1:c.-297-4119_-297-4118delinsAT XP_011540650.1:n.-297-4119_-297-4118delin...
XM_011542347.2:c.-250-4119_-250-4118delinsAT XP_011540649.1:n.-250-4119_-250-4118delin...
XM_017002651.2:c.-437_-436delinsAT XP_016858140.1:n.-437_-436delinsAT
NM_003680.4:c.241_242delinsAT MANE Select NP_003671.1:p.Asp81Ile